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Results 1 - 10 of 12 for Stickler syndrome type 1
  1. ... Genetic Testing Registry: Stickler syndrome Genetic Testing Registry: Stickler syndrome type 1 Genetic Testing Registry: Stickler syndrome type 2 Genetic ...
  2. ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 1 type IX collagen cartilage-specific short collagen collagen IX, ...
  3. ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 3 type IX collagen CO9A3_HUMAN collagen type IX alpha 3 collagen, type IX, alpha 3 DJ885L7.4.1 EDM3 FLJ90759 IDD Tests of COL9A3 PubMed COLLAGEN, ...
  4. ... Several of the COL2A1 gene variants that cause Stickler syndrome create a ... amount of mature type II collagen fibers in cartilage and other tissues. ...
  5. Hearing Disorders and Deafness (National Library of Medicine)  
    It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They ...
  6. ... of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused by ... J Med Genet A. 2005 Jan 1;132A(1):33-5. doi: 10.1002/ajmg.a.30371. Citation on ... heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet. 1998 Nov 2; ...
  7. ... of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these conditions are caused by ...
  8. ... syndrome (described below) and to a form of Stickler syndrome classified as type III. In some cases, it can be difficult ... OSMED (described above) and to a form of Stickler syndrome classified as type III.Like the other mutations that cause OSMED, ...
  9. ... tissues and the signs and symptoms of Marshall syndrome. COLL6 collagen type XI alpha 1 collagen XI, alpha-1 polypeptide collagen, type XI, ...
  10. ... UK) ANE International Angelman, Rett, and Prader-Willi Syndromes Consortium Angioma Alliance Apraxia-KIDS APS Foundation of America APS Support UK APS Type 1 Foundation ARPKD/CHF Alliance Arrhythmia Alliance (UK) Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Program Arthrogryposis Group (UK) ARVD/C Patient Registry Association for Creatine Deficiencies Association for ... Alliance Avery's Angels Axenfeld-Rieger Association Bardet Biedl Syndrome Family Association Barth Syndrome Foundation Batten Disease Family ...
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