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treacher-collins syndrome - inerited disorder causing facial and skull abnormalities
Definition for Treacher-Collins Syndrome
Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities.
more
Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. Treacher Collins syndrome is found in 1 in 10,000 births. The typical physical features include downward slanting eyes, a small lower jaw, and malformed or absent ears. It is named after Edward Treacher Collins (1862–1932), the English surgeon and ophthalmologist who described its essential traits in 1900.
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some common symptoms
ear deformity
eyelid deformity
hearing loss
small jaw
some related diagnoses
1 - 7 of
40
diagnoses
fetal alcohol syndrome
Turner's Syndrome
Down's Syndrome
congenital microtia
DiGeorge's Syndrome
branchio-oto-renal syndrome
diastrophic dwarfism
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do i have 'Treacher-Collins Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'treacher-collins syndrome'
1 - 5 of
20
diagnostic tests
CT Cervical Spine
Treacher-Collins Syndrome and CT Cervical Spine
CT craniofacial
Treacher-Collins Syndrome and CT craniofacial
CT brain
Treacher-Collins Syndrome and CT brain
Dental panoramic radiography
Treacher-Collins Syndrome and Dental panoramic radiography
Hearing test
standard technique of representing hearing loss
Treacher-Collins Syndrome and Hearing test
Magnetic Resonance Imaging (MRI) Inner ear
Treacher-Collins Syndrome and Magnetic Resonance Imaging (MRI) Inner ear
Prenatal Ultrasound
Ultrasound on the fetus before birth
Treacher-Collins Syndrome and Prenatal Ultrasound
vision tests
Treacher-Collins Syndrome and vision tests
Amniocentesis
Treacher-Collins Syndrome and Amniocentesis
Chorionic Villus Sampling (CVS)
Treacher-Collins Syndrome and Chorionic Villus Sampling (CVS)
Molecular Genetic Studies
Treacher-Collins Syndrome and Molecular Genetic Studies
CT external ear
Treacher-Collins Syndrome and CT external ear
CT face
Treacher-Collins Syndrome and CT face
CT middle ear
Treacher-Collins Syndrome and CT middle ear
CT scan
Treacher-Collins Syndrome and CT scan
CT temporal bone(s)
Treacher-Collins Syndrome and CT temporal bone(s)
Comprehensive eye exam
Treacher-Collins Syndrome and Comprehensive eye exam
Dental x-rays
Treacher-Collins Syndrome and Dental x-rays
speech reception threshold (SRT)
Treacher-Collins Syndrome and speech reception threshold (SRT)
ultrasonography face
Treacher-Collins Syndrome and ultrasonography face
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therapeutic procedures for 'Treacher-Collins Syndrome'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Treacher-Collins Syndrome:
therapeutic procedure search results for 'treacher-collins syndrome'
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8
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Hearing aids
instruments to enable a person to hear
Treacher-Collins Syndrome and Hearing aids
Cosmetic Surgery
Treacher-Collins Syndrome and Cosmetic Surgery
Tracheostomy
Treacher-Collins Syndrome and Tracheostomy
Repair of cleft palate
Treacher-Collins Syndrome and Repair of cleft palate
Distraction osteogenesis
Treacher-Collins Syndrome and Distraction osteogenesis
Craniofacial reconstruction
Treacher-Collins Syndrome and Craniofacial reconstruction
Special Education
Treacher-Collins Syndrome and Special Education
Speech Therapy
Treacher-Collins Syndrome and Speech Therapy
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medications search results for 'treacher-collins syndrome'
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medications
rankings are computer generated. please consult your health care provider.
PT/OT
Treacher-Collins Syndrome and PT/OT
web search results for treacher-collins syndrome
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1 - 50
- Treacher-Collins Syndrome
Treacher-Collins syndrome
Definition. Treacher-Collins syndrome is a hereditary condition that causes ... Treacher-Collins syndrome is caused by a defective protein called treacle. ...
http://adam.about.com/HIE/001659.htm
adam.about.com
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summary
Treacher-Collins Syndrome - MedlinePlus
Overview of Treacher-Collins syndrome, an inherited genetic disorder which causes deformities in the face and skull.
http://www.nlm.nih.gov/medlineplus/ency/article/001659.htm
www.nlm.nih.gov
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summary
Treacher-Collins syndrome
Treacher-Collins syndrome is a hereditary condition that causes facial defects. ... if you have a child with Treacher-Collins syndrome and the hearing appears to be ...
http://adam.about.com/encyclopedia/001659trt.htm
adam.about.com
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summary
Born Without a Face : Medical Incredible : Discovery Health
Have you heard about Juliana, the baby born with Treacher-Collins Syndrome? ... Treacher-Collins Syndrome is devastating to newborns, and no example is more ...
http://health.discovery.com/convergence/medicalincredible/bornwithoutface.html
health.discovery.com
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Treacher Collins syndrome - Wikipedia, the free encyclopedia
Treacher Collins syndrome is a rare genetic disorder characterized by ... People with Treacher Collins Syndrome may also need a feeding tube because some ...
http://en.wikipedia.org/wiki/Treacher_Collins_syndrome
en.wikipedia.org
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Treacher Collins Syndrome - Genetics Home Reference
Briefly explains what Treacher Collins syndrome is and offers links to more information.
http://ghr.nlm.nih.gov/condition=treachercollinssyndrome
ghr.nlm.nih.gov
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Treacher Collins-Franceschetti syndrome 1 (TCOF1)
Homo sapiens Treacher Collins-Franceschetti syndrome 1, mRNA (cDNA clone MGC: ... Human Treacher Collins syndrome (TCOF1) mRNA, complete cds. PA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=519672
www.ncbi.nlm.nih.gov
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Mouth and teeth - Genetics Home Reference
Mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome. Marfan syndrome ... dysplasia see Treacher Collins syndrome. Published: March 20, ...
http://www.ghr.nlm.nih.gov/ghr/conditionsByCategory/show/mouthandteeth
www.ghr.nlm.nih.gov
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Craniofacial Abnormalities: Congenital Craniofacial and Musculoskeletal ...
... palate; Treacher Collins (mandibulofacial ... Treacher Collins syndrome ... Pierre Robin syndrome and Treacher Collins syndrome are characterized by ...
http://www.merck.com/mmpe/print/sec19/ch288/ch288d.html
www.merck.com
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summary
MedlinePlus Medical Encyclopedia: Micrognathia
X0 syndrome (Turner syndrome) Progeria. Treacher-Collins syndrome. Smith-Lemli-Opitz syndrome. Russell-Silver syndrome. Seckel syndrome ...
http://www.nlm.nih.gov/medlineplus/ency/article/003306.htm
www.nlm.nih.gov
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TCOF1 - Treacher Collins-Franceschetti syndrome 1 - Genetics Home Reference
The official name of this gene is "Treacher Collins-Franceschetti syndrome 1. ... Treacher Collins syndrome - caused by mutations in the TCOF1 gene ...
http://ghr.nlm.nih.gov/gene=tcof1
ghr.nlm.nih.gov
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Treacher Collins Franceschetti syndrome 1, homolog (Tcof1)
... PROTEIN (TREACHER COLLINS SYNDROME PROTEIN) (PUTATIVE NUCLEOLAR TRAFFICKING ... Mus musculus Treacher Collins Franceschetti syndrome 1, homolog, mRNA (cDNA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=2215
www.ncbi.nlm.nih.gov
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Hearing loss with craniofacial syndromes - Wikipedia, the free encyclopedia
Individuals with Treacher Collins syndrome often have both cleft palate and ... Patients with Treacher Collins syndrome exhibit hearing losses similar to those ...
http://en.wikipedia.org/wiki/Hearing_loss_with_craniofacial_syndromes
en.wikipedia.org
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Ear, nose, and throat - Genetics Home Reference
Mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome ... Treacher Collins syndrome. TRMA see thiamine-responsive megaloblastic anemia syndrome ...
http://www.ghr.nlm.nih.gov/ghr/conditionsByCategory/show/earnoseandthroat
www.ghr.nlm.nih.gov
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PATENT DUCTUS ARTERIOSUS - Pedbase.org
... Syndrome; Charge and VATER Associations, Maternal PKU, Fetal ... Syndrome; Carpenter, Conradi, Crouzon, Smith-Limli-Opitz, Treacher Collins Syndromes ...
http://pedbase.org/p/patent-ductus-arteriosus_pda/
pedbase.org
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Micrognathia
X0 syndrome (Turner syndrome) Progeria. Treacher-Collins syndrome. Smith-Lemli-Opitz syndrome. Russell-Silver syndrome. Seckel syndrome ...
http://adam.about.com/encyclopedia/Micrognathia.htm
adam.about.com
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Treacher Collins Syndrome -- GeneReviews -- NCBI Bookshelf
Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Treacher Collins Syndrome ... Copyright © 1993?2009 All Rights Reserved University of ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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Chromosome 5 - Conditions related to genes on chromosome 5 - Genetics ...
Ehlers-Danlos syndrome. enlarged parietal foramina. episodic ataxia ... Sotos syndrome. spinal muscular atrophy. Treacher Collins syndrome. Usher syndrome ...
http://ghr.nlm.nih.gov/chromosome=5/show/Conditions
ghr.nlm.nih.gov
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summary
Encyclopedia T-Tz on Yahoo! Health
Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, incidence, risk ... Treacher Collins Syndrome. Tremor ...
http://health.yahoo.com/ency/t/
health.yahoo.com
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Treacher Collins Syndrome -- GeneReviews -- NCBI Bookshelf
Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Treacher Collins Syndrome ... Patients with TCS and detected TCOF1 mutation, (a-k) are ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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Bone Diseases - Genetics Home Reference
Pfeiffer syndrome. platyspondylic lethal skeletal dysplasia, Torrance type ... Treacher Collins syndrome. Weissenbacher-Zweymüller syndrome ...
http://www.ghr.nlm.nih.gov/conditionGroup=bonediseases
www.ghr.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Hearing loss
Leopard syndrome (multiple lentigines) Otosclerosis. Robinson type ... Multiple lentigines syndrome. Treacher Collins syndrome. Stickler syndrome. Congenital: ...
http://www.nlm.nih.gov/medlineplus/ency/article/003044.htm
www.nlm.nih.gov
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154500
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154500
www.ncbi.nlm.nih.gov
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Index: TR: Merck Manual Home Edition
Treacher Collins syndrome. Bone and Muscle Defects: Facial Defects. Tremor. Tremor ... Trousseau's syndrome. Superficial Thrombophlebitis. Trovafloxacin ...
http://www.merck.com/mmhe/index/ind_tr.html
www.merck.com
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Eyes and vision - Genetics Home Reference
... syndrome see Treacher Collins ... Mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome ... Treacher Collins syndrome. trisomy 13. trisomy 18 ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/eyesandvision
ghr.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Pinna abnormalities and low-set ears
Down syndrome. Turner syndrome ... Treacher Collins syndrome. Potter syndrome. Trisomy 18. Beckwith-Wiedemann syndrome. Trisomy 13 ...
http://www.nlm.nih.gov/medlineplus/ency/article/003303.htm
www.nlm.nih.gov
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Older paternal age and fresh gene mutation: data on additional disorders.
... syndrome, the oculo-dental-digital sysdrome, and the Treacher-Collins syndrome. ... Hallermann's Syndrome/genetics. Humans. Iris/abnormalities. Jaw ...
http://www.ncbi.nlm.nih.gov/pubmed/1110452?dopt=Abstract
www.ncbi.nlm.nih.gov
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Chong DK, Murray DJ, Britto JA , Tompson B, Forrest CR, Phillips JH.
77e-84e BACKGROUND: Treacher Collins syndrome is an autosomal dominant condition ... METHODS: Twenty-four Treacher Collins syndrome patients (11 male patients and 13 ...
http://www.ncbi.nlm.nih.gov/pubmed/18317089?ordinalpos=3&ito...
www.ncbi.nlm.nih.gov
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Facial Injuries and Disorders - Genetics Home Reference
Apert syndrome. Baller-Gerold syndrome. Beare-Stevenson cutis gyrata ... Saethre-Chotzen syndrome. Simpson-Golabi-Behmel syndrome. Treacher Collins syndrome ...
http://ghr.nlm.nih.gov/medlineplusTopic=facialinjuriesanddisorders
ghr.nlm.nih.gov
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MedlinePlus: Facial Injuries and Disorders
... Understanding Treacher Collins Syndrome(Children's ... Genetics Home Reference: Treacher Collins syndrome(National Library of Medicine) Return to top ...
http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html
www.nlm.nih.gov
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Pinna abnormalities and low-set ears
Down syndrome. Turner syndrome ... Treacher Collins syndrome. Potter syndrome. Trisomy 18. Beckwith-Wiedemann syndrome. Trisomy 13 ...
http://adam.about.com/encyclopedia/003303.htm
adam.about.com
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HEARING LOSS - Pedbase.org
... Syndrome. Treacher Collins Syndrome. Waardenburg Syndrome. 4. ... Pierre Robbin Syndrome. Treacher Collins Syndrome. Trisomy 21. 5. Miscellaneous. Prematurity ...
http://www.pedbase.org/h/hearing-loss
www.pedbase.org
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Treacher Collins Syndrome -- GeneReviews -- NCBI Bookshelf
Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Treacher Collins Syndrome ... The proband shows the characteristic facial phenotype ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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Pierre Robin syndrome - Wikipedia, the free encyclopedia
... syndrome, Fetal Alcohol Syndrome and Treacher Collins Syndrome. ... syndrome · Hypertelorism · Hallermann-Streiff syndrome · Treacher Collins syndrome ...
http://en.wikipedia.org/wiki/Pierre_Robin_syndrome
en.wikipedia.org
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Head and Brain Malformations - Genetics Home Reference
Greig cephalopolysyndactyly syndrome. hereditary neuropathy with ... Treacher Collins syndrome. trisomy 13. trisomy 18. Troyer syndrome. X-linked lissencephaly ...
http://ghr.nlm.nih.gov/conditionGroup=headandbrainmalformations
ghr.nlm.nih.gov
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Prenatal diagnosis by isoenzymic differentiation of Treacher Collins ...
... differentiation of Treacher Collins' syndrome induced by retinoids ... and skin tags, all of which were similar to Treacher Collins' syndrome in man. ...
http://www.ncbi.nlm.nih.gov/pubmed/2177918?dopt=Abstract
www.ncbi.nlm.nih.gov
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PMID 8418881
Ear malformation and hearing loss in patients with Treacher Collins syndrome. ... loss of patients with Treacher Collins syndrome is well documented, few studies ...
http://www.ncbi.nlm.nih.gov/pubmed/8418881
www.ncbi.nlm.nih.gov
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Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins ...
Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome. ... PTX1, on 5q31, a region associated with Treacher Collins Franceschetti Syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/9337397
www.ncbi.nlm.nih.gov
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Illustrated Glossary -- GeneReviews -- NCBI Bookshelf
Treacher Collins Syndrome as an Example of Variable Expressivity ... physical examination and is thought to have no manifestations of Marfan syndrome. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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Treacher Collins syndrome - MedlinePlus - Health information - Genetics ...
... Reference condition summary on Treacher Collins syndrome. ... Encyclopedia: Pinna Abnormalities and Low-Set Ears. Encyclopedia: Treacher-Collins Syndrome ...
http://ghr.nlm.nih.gov/condition=treachercollinssyndrome/show/MedlinePlus
ghr.nlm.nih.gov
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MedlinePlus: Birth Defects
Treacher Collins Syndrome(Cleft Palate Foundation) Waardenburg Syndrome(National Institute on Deafness and Other Communication Disorders) ...
http://www.nlm.nih.gov/medlineplus/birthdefects.html
www.nlm.nih.gov
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Treacher Collins Syndrome - Yahoo! Health
Important It is possible that the main title of the report Treacher Collins Syndrome is not the name you expected. Please check the synonyms listing to find the ...
http://health.yahoo.com/children-genetic/treacher-collins-sy...
health.yahoo.com
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TREACHER COLLINS SYNDROME - Pedbase.org
PEDBASE.org - The Pediatric Database - Detailed information of TREACHER COLLINS SYNDROME ... .org. Powered by Database of Pediatrics- TREACHER COLLINS SYNDROME ...
http://pedbase.org/t/treacher-collins-syndrome/
pedbase.org
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A review of physical, behavioral, and oral characteristics associated ...
... with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome. ... Syndrome*/complications. Angelman Syndrome*/pathology. Angelman Syndrome ...
http://www.ncbi.nlm.nih.gov/pubmed/18683396?ordinalpos=3&ito...
www.ncbi.nlm.nih.gov
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Positional cloning of a gene involved in the pathogenesis of Treacher ...
The Treacher Collins Syndrome Collaborative Group. [No authors listed] Treacher Collins syndrome is an autosomal dominant disorder of craniofacial ...
http://www.ncbi.nlm.nih.gov/pubmed/8563749
www.ncbi.nlm.nih.gov
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Hearing loss
Stickler syndrome. Taybi oto-palato-digital syndrome. Treacher Collins syndrome. Trisomy 13 ... Waardenburg syndrome. Congenital: Congenital atresia of the ...
http://adam.about.com/encyclopedia/Hearing-loss.htm
adam.about.com
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TCOF1 - Related Condition(s) - Genetics Home Reference
Treacher Collins syndrome. Reviewed: December 2006. Published: April 10, 2009. Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/gene=tcof1/show/Related+Condition(s)
ghr.nlm.nih.gov
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Bones, muscles, and connective tissues - Genetics Home Reference
Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome ... Mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/bonesmu...
ghr.nlm.nih.gov
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Cleft palate, bilateral external auditory canal atresia, and other ...
Diamond-Blackfan anemia (DBA) is associated with congenital anomalies especially ... of Treacher-Collins syndrome, and both DBA and Treacher-Collins syndrome are ...
http://www.ncbi.nlm.nih.gov/pubmed/17483715
www.ncbi.nlm.nih.gov
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Treacher Collins syndrome: etiology, pathogenesis and prevention.
275-83 Treacher Collins syndrome (TCS) is a rare congenital disorder of ... on a profound appreciation of the etiology and pathogenesis of the syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/19107148?ordinalpos=9&ito...
www.ncbi.nlm.nih.gov
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