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Results 1 - 10 of 11 for Stickler "Syndrome," Dominant
  1. Stickler syndrome 
    ... BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia. Eur J Hum Genet. 2019 ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  2. COL9A1 gene 
    ... in COL9A1 causes the signs and symptoms of dominant multiple epiphyseal dysplasia. More About This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 1 type ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  3. COL9A2 gene 
    ... in COL9A2 cause the signs and symptoms of dominant multiple epiphyseal dysplasia. More About This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  4. COL2A1 gene 
    ... J, Meyer D, Parma S. Clinical variability of Stickler syndrome: role of exon 2 of ... rhegmatogenous retinal detachment associated with an Arg453Ter mutation ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  5. COL11A2 gene 
    ... syndrome (described below) and to a form of Stickler syndrome classified as type III. In some cases, it ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition At least one ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  6. Weissenbacher-Zweymüller syndrome 
    ... of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused ... syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet. 1998 Nov 2;80( ...
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome - Genetics
  7. COL9A3 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 3 type ... Biskup S, Esposito L, Gasparini P. Autosomal recessive Stickler syndrome due to a loss of function mutation in ...
    https://medlineplus.gov/genetics/gene/col9a3 - Genetics
  8. Otospondylomegaepiphyseal dysplasia 
    ... of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these conditions are caused ... Insley-Astley syndrome Mega-epiphyseal dwarfism Nance-Insley syndrome Nance-Sweeney chondrodysplasia OSMED ... autosomal recessive Otospondylomegaepiphyseal ...
    https://medlineplus.gov/.../otospondylomegaepiphyseal-dysplasia - Genetics
  9. Nearsightedness 
    ... night blindness, X-linked congenital stationary night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  10. Nonsyndromic hearing loss 
    ... others), Pendred syndrome (SLC26A4), Wolfram syndrome (WFS1), and Stickler syndrome (COL11A2). It is often unclear how mutations in ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
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