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Results 1 - 10 of 34 for "Ehlers-Danlos" "syndrome," type 2
  1. Ehlers-Danlos syndrome 
    ... Ehlers-Danlos syndrome, musculocontractural type Genetic Testing Registry: Ehlers-Danlos syndrome, musculocontractural type 2 Genetic Testing Registry: Ehlers-Danlos syndrome type 7A ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  2. PLOD1 gene 
    ... procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI) procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 protocollagen lysyl hydroxylase Tests ...
    https://medlineplus.gov/genetics/gene/plod1 - Genetics
  3. Ehlers-Danlos Syndrome Hypermobility Type (Marfan Foundation) - PDF  
    Ehlers-Danlos Syndrome/Learn More ... Ehlers-Danlos Syndrome ... Marfan Foundation ... PDF
    https://live-the-marfan-foundation-site.pantheonsite.io/...-Type.pdf - External Health Links
  4. Renal Tubular Acidosis From the National Institutes of Health (National Institute of Diabetes and Digestive and Kidney Diseases)  
    Learn about the different types of renal tubular acidosis (RTA), their causes, how RTA is diagnosed, and how it is treated. ... Renal tubular acidosis, RTA, ...
    https://www.niddk.nih.gov/.../kidney-disease/renal-tubular-acidosis - External Health Links
  5. COL5A2 gene 
    ... type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. Hum Mol Genet. 1998 Feb;7(2):249-55. doi: 10.1093/hmg/7.2.249. Citation on PubMed Richards AJ, Martin S, Nicholls AC, ... in COL5A2 causes Ehlers-Danlos syndrome type II. J Med Genet. 1998 Oct;35(10): ...
    https://medlineplus.gov/genetics/gene/col5a2 - Genetics
  6. COL3A1 gene 
    ... 1097/CRD.0b013e3182342316. Citation on PubMed Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007 Jul 19;2:32. doi: 10.1186/1750-1172-2-32. ...
    https://medlineplus.gov/genetics/gene/col3a1 - Genetics
  7. ADAMTS2 gene 
    ... PH, Lapiere CM, Prockop DJ, Nusgens BV. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet. 1999 Aug;65(2):308-17. doi: 10.1086/302504. Citation on ...
    https://medlineplus.gov/genetics/gene/adamts2 - Genetics
  8. TNXB gene 
    ... syndrome overlap significantly with those of the hypermobile type of Ehlers-Danlos syndrome. Studies suggest that they may be forms of the same condition.Some people with Ehlers-Danlos syndrome have mutations in two copies of the TNXB gene in each cell. ...
    https://medlineplus.gov/genetics/gene/tnxb - Genetics
  9. COL5A1 gene 
    ... mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. ... analysis demonstrates type V collagen mutations in over 90% of patients ...
    https://medlineplus.gov/genetics/gene/col5a1 - Genetics
  10. COL1A2 gene 
    ... Tests of COL1A2 PubMed ... Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/gene/col1a2 - Genetics
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