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Results 1 - 9 of 9 for Autosomal recessive Stickler syndrome
  1. Stickler syndrome 
    ... of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A. 2011 Jul;155A( ... Athanasakis E, Biskup S, Esposito L, Gasparini P. Autosomal recessive Stickler syndrome due to a loss of function mutation in ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  2. COL9A1 gene 
    ... Camp G, Cremers FP, van den Born LI. Autosomal recessive Stickler syndrome in two families is caused by mutations in ... Van de Heyning P, Usami S. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  3. COL9A2 gene 
    ... of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A. 2011 Jul;155A( ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  4. COL9A3 gene 
    ... Athanasakis E, 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
  5. Nearsightedness 
    ... include nearsightedness as a feature. These conditions include autosomal recessive congenital stationary 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
  6. Weissenbacher-Zweymüller syndrome 
    ... Elbedour K, Birk OS. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). ...
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome - Genetics
  7. Otospondylomegaepiphyseal dysplasia 
    ... Elbedour K, Birk OS. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). ...
    https://medlineplus.gov/.../otospondylomegaepiphyseal-dysplasia - Genetics
  8. COL11A2 gene 
    ... Elbedour K, Birk OS. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  9. Nonsyndromic hearing loss 
    ... condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does ... of nonsyndromic hearing loss are inherited in an autosomal recessive pattern. About half of all severe-to-profound ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics