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Results 1 - 10 of 22 for "Ehlers-Danlos" "syndrome," type 3
  1. 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
  2. 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
  3. 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
  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. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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