... of cutis laxa: autosomal dominant cutis laxa type 3 (ADCL3) and autosomal recessive cutis laxa type 3A (ARCL3A, which is also known as de Barsy syndrome). In autosomal dominant cutis laxa, one copy of the altered ALDH18A1 ...

... study. Am J Hum Genet. 2007 Sep;81(3):454-66. doi: 10.1086/520125. Epub 2007 ... autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan;40(1):34- ...

... symptoms of SOX2 anophthalmia syndrome. SOX2 SOX2 anophthalmia syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...

... genetic cause is unknown. FBN1 SKI Shprintzen-Goldberg syndrome is described as autosomal dominant, which means one copy of the altered gene ... a.31006. No abstract available. Citation on PubMed Robinson PN, ... Am J Med Genet A. 2005 Jun 15;135(3):251-62. doi: 10.1002/ajmg.a.30431. ...

... symptoms of this condition. chromosome 8 Recombinant 8 syndrome is inherited in an autosomal dominant pattern, which means one copy of the recombinant ...

... to overgrowth and instability of tissues in Marfan syndrome. FBN1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...

... cancerous tumors. EPCAM MLH1 MSH2 MSH6 PMS2 Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the ...

... cysts that are characteristic of von Hippel-Lindau syndrome. VHL Mutations in the VHL gene are inherited in an autosomal dominant pattern, which means that one copy of the ...

... members and heterotaxy syndrome in others.When heterotaxy syndrome runs in families, it can have an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance, ...

... RRAS SOS2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Familial Turner syndrome Female pseudo-Turner syndrome Male Turner syndrome Noonan' ...