Results 1 -
10
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22
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"Ehlers-Danlos" "syndrome," type 3
- Ehlers-Danlos Syndrome Hypermobility Type (Marfan Foundation) - PDFEhlers-Danlos Syndrome/Learn More ... Ehlers-Danlos Syndrome ... Marfan Foundation ... PDF
- ... 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 ...
- ... 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 ...
- Kidney Diseases/Specifics ... Kidney Diseases ... National Institute of Diabetes and Digestive and Kidney Diseases ... Learn about the different types of renal tubular ...
- ... 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 ...
- About Aortic Aneurysm (Centers for Disease Control and Prevention)Aortic Aneurysm/Start Here ... Aortic Aneurysm ... Centers for Disease Control and Prevention ... Learn about aortic aneurysms, a balloon-like bulge in the aorta that ...
- ... 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; ...
- ... 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 ...
- ... 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): ...
- ... 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. ...