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Autosomal recessive robin syndrome
- ... of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A. 2011 Jul;155A(7):1668-72. doi: 10.1002/ajmg.a.34071. Epub 2011 Jun 10. Citation on PubMed Boothe M, Morris R, Robin N. Stickler Syndrome: A Review of Clinical Manifestations ...
- ... Heterozygous otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia, autosomal dominant Pierre Robin syndrome with fetal ... I, Zurkowski L. Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia. Am J Med Genet. 1992 Aug ...
- ... cancer. BUB1B CEP57 TRIP13 All types of MVA syndrome are inherited in an autosomal recessive pattern, which means both copies of the BUB1B, ... mutations. The parents of an individual with an autosomal recessive condition ... of individuals with MVA syndrome type 1, who have a mutation in one ...
- ... ZFP57 gene mutations, it is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... with mutations in the ADGRG1 gene), have an autosomal recessive pattern of inheritance. In autosomal recessive inheritance, both copies of the gene in each ...
