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Results 1 - 10 of 11 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. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. COL1A1 gene 
    ... signs and symptoms of both osteogenesis imperfecta and Ehlers-Danlos syndrome ... with these two conditions.A common variation in the COL1A1 gene ( ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  10. FLNA gene 
    ... which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome (described below). ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
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