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Stickler syndrome type 1
- ... Genetic Testing Registry: Stickler syndrome Genetic Testing Registry: Stickler syndrome type 1 Genetic Testing Registry: Stickler syndrome type 2 Genetic ...
- ... 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, ...
- ... 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, ...
- 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 ...
- ... II collagen underlies the signs and symptoms of Stickler syndrome type I. More About This Health Condition Variants in ... Snead MP. Variation in the vitreous phenotype of Stickler syndrome can be caused ... in the X position of the type II collagen Gly-X-Y triple helix. Am ...
- ... 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; ...
- ... of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these conditions are caused by ...
- ... 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, ...
- ... percent of all cases of Stickler syndrome. When Stickler syndrome results from COL11A1 gene mutations, it is classified as type II. Signs and symptoms of this condition include ...
- ... 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 ...