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Stickler "Syndrome," Dominant
- ... BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia. Eur J Hum Genet. 2019 ...
- ... 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( ...
- ... 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 ...
- ... night blindness, X-linked congenital stationary night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness ...
- ... others), Pendred syndrome (SLC26A4), Wolfram syndrome (WFS1), and Stickler syndrome (COL11A2). It is often unclear how mutations in ...
- ... organs and tissues in the body, such as Stickler syndrome or campomelic dysplasia. These instances are described as ... the condition is inherited, it follows an autosomal dominant pattern, which means one copy of the DNA ... Genetic ...
