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ehlers-danlos syndrome type i - genetic disorder affecting collagen synthesis
Definition for Ehlers-Danlos Syndrome type I
Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis.
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Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. Depending on the individual mutation, the severity of the disease can vary from mild to life-threatening. There is no known cure. Treatment is supportive.
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some common symptoms
cigarette paper scars
frequent joint dislocations
hip dislocation
increased joint mobility
some related diagnoses
1 - 7 of
18
diagnoses
hereditary sensory neuropathy type I
polyneuropathy
grand mal seizures
swimmer's shoulder
neurosyphilis
multiple endocrine neoplasia type 2b
syringomyelia
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do i have 'Ehlers-Danlos Syndrome type I'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'ehlers-danlos syndrome type i'
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diagnostic tests
Biopsy skin
Ehlers-Danlos Syndrome type I and Biopsy skin
ECHOcardiogram
Ehlers-Danlos Syndrome type I and ECHOcardiogram
Molecular Genetic Studies
Ehlers-Danlos Syndrome type I and Molecular Genetic Studies
therapeutic procedures for 'Ehlers-Danlos Syndrome type I'?
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 Ehlers-Danlos Syndrome type I:
therapeutic procedure search results for 'ehlers-danlos syndrome type i'
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Physical and Occupational Therapy
Arthritis Physical and Occupational Therapy
Ehlers-Danlos Syndrome type I and Physical and Occupational Therapy
medications search results for 'ehlers-danlos syndrome type i'
rankings are computer generated. please consult your health care provider.
web search results for ehlers-danlos syndrome type i
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- Ehlers-Danlos Syndrome type I
Ehlers-Danlos syndrome type IV in a young man.
Ehlers-Danlos syndrome type IV in a young man. Asherson RA, Bosman C, Tikly M, Spiro F, Pope FM. ... of vascular Ehlers-Danlos syndrome, type IV; the body ...
http://www.ncbi.nlm.nih.gov/pubmed/17014025
www.ncbi.nlm.nih.gov
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summary
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the ...
BACKGROUND: Ehlers-Danlos syndrome type IV, the vascular type, results from ... patients with biochemically confirmed Ehlers-Danlos syndrome type IV and 199 of ...
http://www.ncbi.nlm.nih.gov/pubmed/10706896
www.ncbi.nlm.nih.gov
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summary
A family with Ehlers-Danlos syndrome type III/articular hypermobility ...
... with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a ... Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable disorders of ...
http://www.ncbi.nlm.nih.gov/pubmed/7833919?dopt=Abstract
www.ncbi.nlm.nih.gov
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summary
Ehlers-Danlos syndrome - Wikipedia, the free encyclopedia
Inheritance patterns depend on the type of Ehlers-Danlos syndrome. ... to the summary for each type of Ehlers-Danlos syndrome for a discussion of its ...
http://en.wikipedia.org/wiki/Ehlers_Danlos_Syndrome
en.wikipedia.org
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summary
COL1A1 - collagen, type I, alpha 1 - Genetics Home Reference
... gene are responsible for the arthrochalasia type of Ehlers-Danlos syndrome. ... gene has also been shown to cause the classic type of Ehlers-Danlos syndrome. ...
http://ghr.nlm.nih.gov/gene=col1a1
ghr.nlm.nih.gov
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summary
Ehlers-Danlos Syndrome: Hereditary Connective Tissue Disorders: Merck ...
Ehlers-Danlos syndrome is caused by an abnormality in one of the ... one specific type of Ehlers-Danlos syndrome, complications (usually bleeding) are fatal. ...
http://www.merck.com/mmhe/sec23/ch279/ch279c.html
www.merck.com
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summary
Ehlers-Danlos Syndrome Glossary of Terms with Definitions on ...
Ehlers-Danlos Syndrome glossary includes a list of Ehlers-Danlos ... The medical term for the common ("classic") type of clubfoot is talipes equinovarus. ...
http://www.medicinenet.com/ehlers-danlos_syndrome/glossary.htm
www.medicinenet.com
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summary
Ehlers-Danlos Syndrome, Classic Type
... type I is a rare cause of Ehlers-Danlos Syndrome hyermobility type. ... type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I. ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
MedlinePlus Medical Encyclopedia: Ehlers-Danlos syndrome
Ehlers-Danlos syndrome is a group of inherited disorders marked by extremely ... Those with the rare vascular type of EDS are at significantly increased risk for ...
http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm
www.nlm.nih.gov
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summary
Sack-Barabas syndrome - Wikipedia, the free encyclopedia
(Redirected from Ehlers-Danlos syndrome, vascular type) Jump to: navigation, search ... This condition was formerly called Ehlers-Danlos IV type syndrome. ...
http://en.wikipedia.org/wiki/Ehlers-Danlos_syndrome,_vascular_type
en.wikipedia.org
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summary
COL1A2 - collagen, type I, alpha 2 - Genetics Home Reference
Ehlers-Danlos syndrome - caused by mutations in the COL1A2 gene ... have been found in people with the arthrochalasia type of Ehlers-Danlos syndrome. ...
http://ghr.nlm.nih.gov/gene=col1a2
ghr.nlm.nih.gov
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summary
Ehlers-Danlos Syndrome, Classic Type -- GeneReviews -- NCBI Bookshelf
The diagnosis of Ehlers-Danlos syndrome (EDS), classic type is established by ... type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds
www.ncbi.nlm.nih.gov
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Ehlers-Danlos Syndrome: Bone and Connective Tissue Disorders in ...
... is usually autosomal dominant, but Ehlers-Danlos syndrome is heterogeneous. ... in the genes that encode collagens (eg, type I, III, or V) or collagen-modifying ...
http://www.merck.com/mmpe/sec19/ch284/ch284c.html
www.merck.com
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summary
Orphanet: Ehlers Danlos syndrome, type 4
Ehlers-Danlos syndrome, type 4. Orpha number. ORPHA286. Prevalence of rare diseases. 1-9 / 100 000 ... syndrome. Ehlers-Danlos syndrome, vascular type. Summary ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=286
www.orpha.net
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summary
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome is a group of inherited disorders marked by extremely ... Those with the rare vascular type of EDS are at significantly increased risk for ...
http://adam.about.com/encyclopedia/infectiousdiseases/Ehlers-Danlos-syndrome.htm
adam.about.com
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summary
Ehlers-Danlos syndrome - References - Genetics Home Reference
Human Ehlers-Danlos syndrome type VII C and bovine ... type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II) ...
http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome/show/References
ghr.nlm.nih.gov
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summary
Ehlers-Danlos syndrome - OMIM - Genetic disorder catalog - Genetics ...
OMIM: Ehlers-Danlos Syndrome, Type I (Classic Type) ... OMIM: Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant (Arthrochalasia Type) ...
http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome/show/OMIM
ghr.nlm.nih.gov
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summary
Ehlers-Danlos Syndrome, Hypermobility Type -- GeneReviews -- NCBI Bookshelf
Ehlers-Danlos syndrome (EDS), hypermobility type is generally considered the ... of cardiac defects in the Ehlers-Danlos syndrome, types I and III. Ann Intern Med. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds3
www.ncbi.nlm.nih.gov
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summary
Ehlers Danlos Syndrome - Yahoo! Health
... is possible that the main title of the report Ehlers Danlos Syndrome is not the name you expected. Please check the ... Ehlers Danlos syndrome, classic type ...
http://health.yahoo.com/musculoskeletal-overview/ehlers-danl...
health.yahoo.com
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summary
Ehlers-Danlos Syndrome ... Dental Office Precautio - MedicineNet ...
Some forms of Ehlers-Danlos syndrome can predispose to fragile blood vessels and ... Furthermore, Ehlers-Danlos syndrome type X in particular is associated with a ...
http://www.medicinenet.com/script/main/art.asp?articlekey=7552
www.medicinenet.com
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summary
COL3A1 - collagen, type III, alpha 1 - Genetics Home Reference
... that cause the vascular type of Ehlers-Danlos syndrome have been identified in the COL3A1 gene. ... signs and symptoms of vascular Ehlers-Danlos syndrome. ...
http://ghr.nlm.nih.gov/gene=col3a1
ghr.nlm.nih.gov
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summary
Ehlers-Danlos Syndrome, Hypermobility Type
Ehlers-Danlos syndrome (EDS), hypermobility type is ... The spectrum of cardiac defects in the Ehlers-Danlos. syndrome, types I and III. Ann Intern Med. ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Ehlers-Danlos Syndrome, Vascular Type -- GeneReviews -- NCBI Bookshelf
Ehlers-Danlos syndrome, vascular type (also known as EDS IV) is characterized by ... Ehlers-Danlos syndrome, hypermobility type (EDS III) ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds4
www.ncbi.nlm.nih.gov
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summary
Ehlers-Danlos syndrome - Gene Reviews - Clinical summary - Genetics ...
... Home Reference condition summary on Ehlers-Danlos syndrome. Gene Review: Classic Type. Gene Review: Hypermobility Type. Gene Review: Kyphoscoliotic Form ...
http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome/show/Gene+Reviews
ghr.nlm.nih.gov
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Ehlers-Danlos Syndrome: Hereditary Connective Tissue Disorders: Merck ...
Ehlers-Danlos syndrome is a rare disorder of connective tissue ... one specific type of Ehlers-Danlos syndrome, complications (usually bleeding) are fatal. ...
http://www.merck.com/mmhe/print/sec23/ch279/ch279c.html
www.merck.com
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Connective Tissue Diseases Causes, Symptoms, Types and Characteristics ...
... Marfan syndrome, rheumatoid arthritis and Ehlers-Danlos syndrome. ... lungs, eyes, and skeleton) and Ehlers-Danlos syndrome (many types may have loose, ...
http://www.medicinenet.com/script/main/art.asp?articlekey=6170&page=2
www.medicinenet.com
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summary
ADAMTS2 - ADAM metallopeptidase with thrombospondin type 1 motif, 2 ...
Ehlers-Danlos syndrome - caused by mutations in the ADAMTS2 gene ... in people with a form of Ehlers-Danlos syndrome called the dermatosparaxis type. ...
http://ghr.nlm.nih.gov/gene=adamts2
ghr.nlm.nih.gov
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summary
Ehlers-Danlos Syndrome, Kyphoscoliotic Form
-- GeneReviews -- NCBI ...
EHLERS-DANLOS SYNDROME, TYPE VI ... diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) ... B. Ehlers-Danlos Syndrome Type VI (EDS ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds6
www.ncbi.nlm.nih.gov
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Ehlers-Danlos syndrome - Related Gene(s) - Genetics Home Reference
Genetic Conditions > Ehlers-Danlos syndrome > Related Gene(s) ... COL1A1: collagen, type I, alpha 1. COL1A2: collagen, type I, alpha 2 ...
http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome/show/Related+Gene(s)
ghr.nlm.nih.gov
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summary
COL5A2 - Wikipedia, the free encyclopedia
... mutation in COL5A2 causes Ehlers-Danlos syndrome type II.". J. Med. ... in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.". Am. J. Hum. ...
http://en.wikipedia.org/wiki/COL5A2
en.wikipedia.org
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Multifaceted dermal ultrastructural clues for Ehlers-Danlos syndrome ...
... clues for Ehlers-Danlos syndrome with arterial rupture and type I collagen R-to-C substitution. ... Ehlers-Danlos Syndrome/pathology. Humans. Skin ...
http://www.ncbi.nlm.nih.gov/pubmed/17890912
www.ncbi.nlm.nih.gov
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Ehlers-Danlos syndrome - Educational resources - Information pages ...
Orphanet: Ehlers-Danlos syndrome, arthrochalasic type. Orphanet: Ehlers-Danlos syndrome, classic type. Orphanet: Ehlers-Danlos syndrome, dermatosparaxis type ...
http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome/show/Educational+resources
ghr.nlm.nih.gov
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Ehlers-Danlos syndrome - MayoClinic.com
Ehlers-Danlos syndrome ? Comprehensive overview covers symptoms, causes, treatment of this ... signs and symptoms of the particular type that you have. ...
http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706/rss=1
www.mayoclinic.com
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Ehlers-Danlos syndrome - PubMed - Recent literature - Genetics Home ...
Genetic Conditions > Ehlers-Danlos syndrome > PubMed - Recent literature ... in the Genetics Home Reference condition summary on Ehlers-Danlos syndrome. ...
http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome/show/PubMed
ghr.nlm.nih.gov
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summary
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are ...
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by ... Ehlers-Danlos syndrome (EDS) type VIIC is a recessively inherited connective ...
http://www.ncbi.nlm.nih.gov/pubmed/10417273
www.ncbi.nlm.nih.gov
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Ehlers-Danlos Syndrome, Classic Type -- GeneReviews -- NCBI Bookshelf
Bookshelf " GeneReviews " Ehlers-Danlos Syndrome, Classic Type. Figure 1. Skin hyperextensibility ... 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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Collagen, type III, alpha 1 - Wikipedia, the free encyclopedia
Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) ... gene are associated with Ehlers-Danlos syndrome type IV, and with aortic ...
http://en.wikipedia.org/wiki/Type-III_collagen
en.wikipedia.org
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summary
Ehlers-Danlos syndrome
Ehlers-Danos syndrome is a group of inherited disorders characterized by ... Patients with the rare vascular type of EDS are at significantly increased risk ...
http://adam.about.com/encyclopedia/001468trt.htm?p=1
adam.about.com
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summary
Ehlers-Danlos syndrome: All - MayoClinic.com
Ehlers-Danlos syndrome ? Comprehensive overview covers symptoms, causes, treatment of this connective tissue disorder. ... Classical type (formerly types I and II) ...
http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00...
www.mayoclinic.com
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summary
Ehlers-Danlos Syndrome, Classic Type -- GeneReviews -- NCBI Bookshelf
Bookshelf " GeneReviews " Ehlers-Danlos Syndrome, Classic Type. Figure 2. Widened atrophic scars ... 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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summary
Abnormal retinal blood vessels in Ehlers-Danlos syndrome type VI.
BACKGROUND: Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue ... Ehlers-Danlos Syndrome/complications* Humans. Male. Retinal Detachment/etiology ...
http://www.ncbi.nlm.nih.gov/pubmed/18158597?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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summary
Spontaneous retrobulbar hemorrhage in type IV Ehlers-Danlos syndrome.
... describe a case of spontaneous retrobulbar hemorrhage in type IV Ehlers-Danlos ... year-old man with type IV Ehlers-Danlos syndrome was documented by clinical and ...
http://www.ncbi.nlm.nih.gov/pubmed/11860990
www.ncbi.nlm.nih.gov
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summary
COL5A1 - collagen, type V, alpha 1 - Genetics Home Reference
Ehlers-Danlos syndrome - caused by mutations in the COL5A1 gene ... structure cause the signs and symptoms of classical Ehlers-Danlos syndrome. ...
http://ghr.nlm.nih.gov/gene=col5a1
ghr.nlm.nih.gov
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summary
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos ...
... of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) ... Ehlers-Danlos Syndrome/genetics* Exons/genetics. Female. Genes, Recessive/genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/15077201
www.ncbi.nlm.nih.gov
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Ehlers-Danlos Syndrome, Classic Type -- GeneReviews -- NCBI Bookshelf
Bookshelf " GeneReviews " Ehlers-Danlos Syndrome, Classic Type ... Copyright © 1993?2009 All Rights Reserved University of Washington, Seattle ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders. ... Ehlers-Danlos Syndrome/genetics* Female. Haplotypes. Humans. Male ...
http://www.ncbi.nlm.nih.gov/pubmed/9783710
www.ncbi.nlm.nih.gov
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Ehlers-Danlos Syndrome (EDS) Causes, Symptoms, Treatment and Types on ...
home > arthritis center > arthritis a-z list > ehlers-danlos syndrome index ... types of Ehlers-Danlos syndromes: Classical type, Hypermobility type, Vascular ...
http://www.medicinenet.com/ehlers-danlos_syndrome/index.htm
www.medicinenet.com
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PLOD1 - procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 - Genetics ...
... mutations cause a form of Ehlers-Danlos syndrome called the kyphoscoliosis type. ... 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI) ...
http://ghr.nlm.nih.gov/gene=plod1
ghr.nlm.nih.gov
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Orphanet: Ehlers Danlos syndrome, type 7C
Ehlers-Danlos syndrome, type 7C. Orpha number. ORPHA1901. Prevalence of rare diseases ... Ehlers-Danlos syndrome, dermatosparaxis type. Summary ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1901
www.orpha.net
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summary
The spectrum, management and clinical outcome of Ehlers-Danlos syndrome ...
... and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. ... PURPOSE: Ehlers-Danlos syndrome type IV (EDS-IV) results from abnormal ...
http://www.ncbi.nlm.nih.gov/pubmed/16012458
www.ncbi.nlm.nih.gov
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summary
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