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holt-oram syndrome - inherited disorder with abnormal bones and heart disease
Definition for Holt-Oram Syndrome
Holt-Oram syndrome is a disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems.
more
Holt-Oram syndrome is a disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems. All people with this disorder have at least one limb abnormality that affects bones in the wrist (carpal bones). Often, these wrist bone abnormalities can be detected only by X-ray. Affected individuals may have additional bone abnormalities that can include a missing thumb or a thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities that affect the collar bone and shoulder blades. Bone abnormalities may affect each arm differently, and the left side can be affected more than the right side. In some cases, only one arm and/or hand is affected.
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some common symptoms
arm(s) and or leg(s) deformed
deformity of hand(s) and or finger(s)
heart murmur
heart murmur systolic
some related diagnoses
1 - 4 of
4
diagnoses
thalassemia intermedia
mixed connective tissue disease
Fanconi's pancytopenia Syndrome
thalassemia major
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do i have 'Holt-Oram Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'holt-oram syndrome'
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diagnostic tests
Molecular Genetic Studies
Holt-Oram Syndrome and Molecular Genetic Studies
X-ray hand(s)
Holt-Oram Syndrome and X-ray hand(s)
X-ray wrist(s)
Holt-Oram Syndrome and X-ray wrist(s)
24-hour Holter monitoring
24 monitoring of heart rhythm
Holt-Oram Syndrome and 24-hour Holter monitoring
Chest X-ray
Radiological technique to image the chest
Holt-Oram Syndrome and Chest X-ray
ECHOcardiogram
Holt-Oram Syndrome and ECHOcardiogram
EKG
Electrocardiogram
Holt-Oram Syndrome and EKG
Cardiac Catheterization
coronary angiogram
Holt-Oram Syndrome and Cardiac Catheterization
X-rays
Holt-Oram Syndrome and X-rays
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therapeutic procedures for 'Holt-Oram 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 Holt-Oram Syndrome:
therapeutic procedure search results for 'holt-oram syndrome'
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therapeutic procedures
rankings are computer generated. please consult your health care provider.
Implantation of Cardiac Pacemaker
Holt-Oram Syndrome and Implantation of Cardiac Pacemaker
medications search results for 'holt-oram syndrome'
rankings are computer generated. please consult your health care provider.
web search results for holt-oram syndrome
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1 - 50
- Holt-Oram Syndrome
Holt-Oram syndrome - Wikipedia, the free encyclopedia
... of individuals with Holt-Oram syndrome have heart problems. ... Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family" ...
http://en.wikipedia.org/wiki/Holt-Oram_syndrome
en.wikipedia.org
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summary
Holt-Oram syndrome - Genetics Home Reference
... percent of individuals with Holt-Oram syndrome have heart problems. ... Gene Review: Holt-Oram Syndrome. MedlinePlus Encyclopedia: Skeletal Limb Abnormalities ...
http://ghr.nlm.nih.gov/condition=holtoramsyndrome
ghr.nlm.nih.gov
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summary
Holt-Oram Syndrome -- GeneReviews -- NCBI Bookshelf
Holt-Oram syndrome (HOS) is characterized by (1) upper-extremity malformations ... The diagnosis of Holt-Oram syndrome (HOS) can be established clinically. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hos
www.ncbi.nlm.nih.gov
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summary
Holt-Oram syndrome - References - Genetics Home Reference
Gene Review: Holt-Oram Syndrome. Huang T, Lock JE, Marshall AC, Basson C, Seidman JG, Seidman CE. ... heart disease: Holt-Oram syndrome revealed. Curr Opin ...
http://ghr.nlm.nih.gov/condition=holtoramsyndrome/show/References
ghr.nlm.nih.gov
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Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.
Holt-Oram syndrome (HOS) is an autosomal dominant syndrome that comprises upper ... Syndrome. T-Box Domain Proteins/genetics* Substances: T-Box Domain Proteins ...
http://www.ncbi.nlm.nih.gov/pubmed/10842287
www.ncbi.nlm.nih.gov
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summary
Prenatal sonographic diagnosis of familial Holt-Oram syndrome ...
... of familial Holt-Oram syndrome diagnosed sonographically at ... most commonly associated with Holt-Oram syndrome are atrial or ventricular septal defects. ...
http://www.ncbi.nlm.nih.gov/pubmed/18685167?ordinalpos=27&it...
www.ncbi.nlm.nih.gov
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Holt-Oram syndrome - Educational resources - Information pages ...
Genetic Conditions > Holt-Oram syndrome > Educational resources - Information pages ... in the Genetics Home Reference condition summary on Holt-Oram syndrome. ...
http://ghr.nlm.nih.gov/condition=holtoramsyndrome/show/Educational+resources
ghr.nlm.nih.gov
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Holt-Oram syndrome - MedlinePlus - Health information - Genetics Home ...
Genetic Conditions > Holt-Oram syndrome > MedlinePlus - Health information ... in the Genetics Home Reference condition summary on Holt-Oram syndrome. ...
http://ghr.nlm.nih.gov/condition=holtoramsyndrome/show/MedlinePlus
ghr.nlm.nih.gov
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Holt-Oram syndrome vs heart-hand syndrome.
1999 Mar 16;99(10):1395-6. Holt-Oram syndrome vs heart-hand syndrome. Basson CT. ... Humans. Mutation. Syndrome. PMID: 10801768 [PubMed - indexed for MEDLINE] ...
http://www.ncbi.nlm.nih.gov/pubmed/10801768
www.ncbi.nlm.nih.gov
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Holt-Oram syndrome - Related Gene(s) - Genetics Home Reference
Genetic Conditions > Holt-Oram syndrome > Related Gene(s) TBX5: T-box 5. Reviewed: June 2006 ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/condition=holtoramsyndrome/show/Related+Gene(s)
ghr.nlm.nih.gov
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The mutation spectrum in Holt-Oram syndrome.
1: J Med Genet. 2000 Oct;37(10):785-7. The mutation spectrum in Holt-Oram syndrome. ... Syndrome. Secondary Source ID: GENBANK/AF221714. PMID: 11183182 [PubMed ...
http://www.ncbi.nlm.nih.gov/pubmed/11183182
www.ncbi.nlm.nih.gov
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Holt-oram syndrome and atrial fibrillation: opening the (T)-box.
2008 Jun 6;102(11):1433-42. Holt-oram syndrome and atrial fibrillation: opening the (T)-box. ... Syndrome. T-Box Domain Proteins/genetics* Substances: T-Box ...
http://www.ncbi.nlm.nih.gov/pubmed/18535267?dopt=Abstract
www.ncbi.nlm.nih.gov
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Holt-Oram syndrome
Holt-Oram syndrome (HOS) is characterized by mild-to-severe congenital cardiac ... Holt-Oram syndrome is caused by mutations in. TBX5, a member of the ...
http://www.orpha.net/data/patho/GB/uk-HOS.pdf
www.orpha.net
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summary
TAR SYNDROME - Pedbase.org
Thrombocytopenia-Absent Radii (TAR) Syndrome is characterized by the neonatal ... Baller-Gerold Syndrome. Fanconi Anemia. Holt-Oram Syndrome. VATER Association ...
http://pedbase.org/t/tar-syndrome/
pedbase.org
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Introduction: Congenital Cardiovascular Anomalies: Merck Manual ...
... syndrome); other anomalies may be part of a genetic syndrome (eg, Holt-Oram syndrome) ... Hypoplastic left heart syndrome ...
http://www.merck.com/mmpe/print/sec19/ch287/ch287a.html
www.merck.com
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summary
MedicineNet Ventricular Septal Defect Specialty
How to Choose a Doctor. Doctor: Checklist to Take To Your Doctor's Appointment ... VACTERL association. Ventricular. Holt-Oram syndrome ...
http://www.medicinenet.com/rss/specialty/Ventricular_Septal_Defect.xml
www.medicinenet.com
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summary
Duane-radial ray syndrome - Wikipedia, the free encyclopedia
... Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes. ... syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, ...
http://en.wikipedia.org/wiki/Duane-radial_ray_syndrome
en.wikipedia.org
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Holt Oram Syndrome - Yahoo! Health
Important It is possible that the main title of the report Holt Oram Syndrome is not the name you expected. Please check the synonyms listing to find the alternate ...
http://health.yahoo.com/heart-resources/holt-oram-syndrome/h...
health.yahoo.com
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Atrial Septal Defect (ASD): Congenital Cardiovascular Anomalies: Merck ...
... part of a genetic syndrome (eg, mutations of chromosome 5, Holt-Oram syndrome) ... when an ASD is undiagnosed or untreated, Eisenmenger's syndrome develops. ...
http://www.merck.com/mmpe/print/sec19/ch287/ch287b.html
www.merck.com
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summary
Orphanet: Holt Oram syndrome
Holt-Oram syndrome. Orpha number. ORPHA392. Prevalence of rare diseases. 1-9 ... Holt-Oram syndrome (HOS) is characterized by mild-to-severe congenital cardiac ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=392
www.orpha.net
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Sick sinus syndrome
Sick sinus syndrome is a group of abnormal heartbeats (arrhythmias) presumably caused by ... Holt-Oram Syndrome. Eisenmenger Syndrome - Pulmonary Hypertension ...
http://adam.about.com/encyclopedia/000161sym.htm
adam.about.com
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MedlinePlus: Congenital Heart Defects
Genetics Home Reference: Holt-Oram syndrome(National Library of Medicine) ... Article: Treating the thoracic aorta in Marfan syndrome: surgery or TEVAR? ...
http://www.nlm.nih.gov/medlineplus/congenitalheartdefects.html
www.nlm.nih.gov
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summary
WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Holt Oram Syndrome. Home blood sugar ...
http://www.webmd.com/a-to-z-guides/health-topics/hk-ho.htm
www.webmd.com
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Turner syndrome
... with Turner syndrome have some ... Turner Syndrome. Holt-Oram Syndrome. Rare Diseases News Briefs 8/12/01. Eisenmenger Syndrome - Pulmonary Hypertension ...
http://adam.about.com/encyclopedia/000379trt.htm
adam.about.com
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MedlinePlus: Hand Injuries and Disorders
Carpal Tunnel Syndrome. Elbow Injuries and Disorders. Raynaud's Disease ... Genetics Home Reference: Holt-Oram syndrome(National Library of Medicine) ...
http://www.nlm.nih.gov/medlineplus/handinjuriesanddisorders.html
www.nlm.nih.gov
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summary
Fountain syndrome - Wikipedia, the free encyclopedia
Fountain syndrome is an autosomal recessive congenital disorder characterized by ... thumb syndrome ˇ Holt-Oram syndrome ˇ Klippel-Trénaunay-Weber syndrome ˇ Nail ...
http://en.wikipedia.org/wiki/Fountain_syndrome
en.wikipedia.org
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summary
[Hand dermatoglyphics in patients with isolated triphalangia and Holt ...
[Hand dermatoglyphics in patients with isolated triphalangia and Holt-Oram syndrome] ... This trait may be considered diagnostic for the Holt-Oram syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/7590221
www.ncbi.nlm.nih.gov
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summary
Duane-radial ray syndrome - Genetics Home Reference
... example, acro-renal-ocular syndrome is characterized by Duane ... Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes. ...
http://ghr.nlm.nih.gov/condition=duaneradialraysyndrome
ghr.nlm.nih.gov
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summary
Nail-patella syndrome - Wikipedia, the free encyclopedia
... thumb syndrome ˇ Holt-Oram syndrome ˇ Klippel-Trénaunay-Weber syndrome ˇ Nail ... dysplasia ˇ Holt-Oram syndrome ˇ Cleidocranial dysostosis ˇ Li-Fraumeni syndrome ...
http://en.wikipedia.org/wiki/Nail-patella_syndrome
en.wikipedia.org
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TBX5 - NextBio
... with Holt-Oram syndrome, a developmental ... Holt-Oram syndrome. Candesartan. Wall of atrium. Placental insufficiency. Penicillin G Potassium Sa...
http://www.nextbio.com/b/home/home.nb?q=TBX5
www.nextbio.com
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Different TBX5 interactions in heart and limb defined by Holt-Oram ...
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. ... the clinical features of Holt-Oram syndrome caused by 10 different ...
http://www.ncbi.nlm.nih.gov/pubmed/10077612
www.ncbi.nlm.nih.gov
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summary
Duane-radial ray syndrome - References - Genetics Home Reference
... a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to ...
http://ghr.nlm.nih.gov/condition=duaneradialraysyndrome/show/References
ghr.nlm.nih.gov
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Functional analysis of TBX5 missense mutations associated with Holt ...
... patients with Holt-Oram syndrome characterized by ... These defects are likely central to the pathogenesis of Holt-Oram syndrome. Publication Types: ...
http://www.ncbi.nlm.nih.gov/pubmed/12499378
www.ncbi.nlm.nih.gov
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Congenital Heart Defects - Genetics Home Reference
Down syndrome. Holt-Oram syndrome. Jervell and Lange-Nielsen syndrome. Marfan syndrome ... BBB syndrome. Romano-Ward syndrome. short QT syndrome. Simpson ...
http://ghr.nlm.nih.gov/conditionGroup=congenitalheartdefects
ghr.nlm.nih.gov
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Craniosynostosis
Holt-Oram Syndrome. Coping with Fibromyalgia - Coping with Chronic Fatigue Syndrome - Learn How... Gastaut Syndrome - What Is Lennox-Gastaut Syndrome. What ...
http://adam.about.com/encyclopedia/001590trt.htm
adam.about.com
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PMID 12843316
... diagnosis of Holt-Oram syndrome and acro-renal-ocular syndrome for SALL4 ... mutations in two German families originally diagnosed as Holt-Oram syndrome ...
http://www.ncbi.nlm.nih.gov/pubmed/12843316
www.ncbi.nlm.nih.gov
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IPEX (syndrome) - Wikipedia, the free encyclopedia
amino acid: Ornithine transcarbamylase deficiency ˇ Oculocerebrorenal syndrome ... dysplasia ˇ Holt-Oram syndrome ˇ Cleidocranial dysostosis ˇ Li-Fraumeni syndrome ...
http://en.wikipedia.org/wiki/IPEX_(syndrome)
en.wikipedia.org
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Chromosome 12 - Conditions related to genes on chromosome 12 - Genetics ...
Holt-Oram syndrome. hypochondrogenesis. Kniest dysplasia ... Noonan syndrome. pachyonychia congenita. Parkinson disease. phenylketonuria ...
http://ghr.nlm.nih.gov/chromosome=12/show/Conditions
ghr.nlm.nih.gov
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Zori Stalker Williams syndrome - Wikipedia, the free encyclopedia
Zori Stalker Williams syndrome at NIH's Office of Rare Diseases ... thumb syndrome ˇ Holt-Oram syndrome ˇ Klippel-Trénaunay-Weber syndrome ˇ Nail ...
http://en.wikipedia.org/wiki/Zori_Stalker_Williams_syndrome
en.wikipedia.org
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SALL4-Related Disorders -- GeneReviews -- NCBI Bookshelf
Holt-Oram syndrome. ... Holt-Oram syndrome is caused by mutations in the gene TBX5. Holt-Oram syndrome and SALL4-related disorders have the same type of radial ray ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=drrs
www.ncbi.nlm.nih.gov
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Heart and circulation - Genetics Home Reference
Cardiac-limb syndrome see Holt-Oram syndrome ... Heart-hand syndrome, type 1 see Holt-Oram syndrome ... syndrome see Holt-Oram syndrome. Ward-Romano Syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=heartandcirculation
ghr.nlm.nih.gov
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PMID 8988165
30-5 Holt-Oram syndrome is characterized by upper limb malformations and cardiac ... nonsense mutation in TBX5 causes Holt-Oram syndrome in affected members of one ...
http://www.ncbi.nlm.nih.gov/pubmed/8988165
www.ncbi.nlm.nih.gov
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Hand Injuries and Disorders - Genetics Home Reference
... Gerold syndrome. Duane-radial ray syndrome. Greig ... genital syndrome. Holt-Oram syndrome. Pallister-Hall syndrome. Timothy syndrome. Townes ...
http://ghr.nlm.nih.gov/conditionGroup=handinjuriesanddisorders
ghr.nlm.nih.gov
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TBX5 - T-box 5 - Genetics Home Reference
Holt-Oram syndrome - caused by mutations in the TBX5 gene. Researchers have identified more than 30 mutations that cause Holt-Oram syndrome. ...
http://ghr.nlm.nih.gov/gene=tbx5
ghr.nlm.nih.gov
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Search Results - Genetics Home Reference
Holt-Oram syndrome. Condition summary. Related term: congenital heart defects. Related genes: TBX5 ... Alagille syndrome. Condition summary. Found in link ...
http://ghr.nlm.nih.gov/ghr/search?query="Congenital+Heart+Defects"
ghr.nlm.nih.gov
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Okihiro syndrome is caused by SALL4 mutations.
... experience, clinical diagnosis of the syndrome can be elusive, owing to the ... features with other conditions, most notably Holt-Oram syndrome, a condition ...
http://www.ncbi.nlm.nih.gov/pubmed/12393809
www.ncbi.nlm.nih.gov
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Impossible syndrome - Wikipedia, the free encyclopedia
Impossible Syndrome, or Chondrodysplasia situs inversus imperforate anus ... thumb syndrome ˇ Holt-Oram syndrome ˇ Klippel-Trénaunay-Weber syndrome ˇ Nail ...
http://en.wikipedia.org/wiki/Impossible_syndrome
en.wikipedia.org
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142900
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142900
www.ncbi.nlm.nih.gov
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summary
Keutel syndrome - Wikipedia, the free encyclopedia
Keutel syndrome is a rare autosomal recessive genetic disorder characterized by ... thumb syndrome ˇ Holt-Oram syndrome ˇ Klippel-Trénaunay-Weber syndrome ˇ Nail ...
http://en.wikipedia.org/wiki/Keutel_syndrome
en.wikipedia.org
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TBX5 - Related Condition(s) - Genetics Home Reference
Related Condition(s) Holt-Oram syndrome. Reviewed: June 2006. Published: April 10, 2009. Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/gene=tbx5/show/Related+Condition(s)
ghr.nlm.nih.gov
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