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Results 1 - 10 of 10 for "Ehlers-Danlos" "syndrome," type 3
  1. PLOD1 gene 
    ... Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type. Hum Genet. 2009 Apr;125(3):346. No abstract available. Citation on PubMed Giunta ...
    https://medlineplus.gov/genetics/gene/plod1 - Genetics
  2. TNXB gene 
    ... A, Voermans NC. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub ...
    https://medlineplus.gov/genetics/gene/tnxb - Genetics
  3. COL5A1 gene 
    ... Malfait F, Francomano CA. Ehlers-Danlos syndrome, classical type. Am J Med ... II. Am J Hum Genet. 1997 Mar;60(3):547-54. Citation on PubMed or Free article ...
    https://medlineplus.gov/genetics/gene/col5a1 - Genetics
  4. COL3A1 gene 
    ... III, alpha 1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) EDS4A Tests of COL3A1 PubMed ... 1097/CRD.0b013e3182342316. Citation on PubMed Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007 Jul 19; ...
    https://medlineplus.gov/genetics/gene/col3a1 - Genetics
  5. ADAMTS2 gene 
    ... of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. ... PH, Lapiere CM, Prockop DJ, Nusgens BV. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by ...
    https://medlineplus.gov/genetics/gene/adamts2 - Genetics
  6. COL5A2 gene 
    ... type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. Hum Mol Genet. 1998 Feb;7(2): ... NP. A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. J Med Genet. 1998 Oct;35(10): ...
    https://medlineplus.gov/genetics/gene/col5a2 - Genetics
  7. COL1A2 gene 
    ... Giunta C, Steinmann B. Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB. Hum Genet. 2008 Jun;123(5):540. ... absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. ...
    https://medlineplus.gov/genetics/gene/col1a2 - Genetics
  8. COL1A1 gene 
    ... C, Voermans N, Zschocke J, Malfait F. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. ... Petersen MB, De Paepe A. Helical mutations in type I collagen that affect the processing of ... Syndrome overlap syndrome. Orphanet J Rare Dis. 2013 May ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  9. FKBP14 gene 
    ... C, Voermans N, Zschocke J, Malfait F. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550. Citation on PubMed ... Ehlers-Danlos syndrome: A patient with early vascular complications and non- ...
    https://medlineplus.gov/genetics/gene/fkbp14 - Genetics
  10. FLNA gene 
    ... 91. doi: 10.1038/ng1119. Epub 2003 Mar 3. Citation on PubMed Robertson SP. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles ...
    https://medlineplus.gov/genetics/gene/flna - Genetics