Article
Genetic and physical mapping of the McKusick-Kaufman syndrome.
Human molecular genetics - 1 Mar 1998
Stone D L, Agarwala R, Schäffer A A, Weber J L, Vaske D, Oda T, Chandrasekharappa S C, Francomano C A, Biesecker L G
Abstract excerpt
McKusick-Kaufman syndrome is a human developmental anomaly syndrome comprising mesoaxial or postaxial polydactyly, congenital heart disease and hydrometrocolpos. This syndrome is diagnosed most frequently in the Old Order Amish population and is inherited in an autosomal recessive pattern with reduced penetrance and variable expressivity. Homozygosity mapping and linkage analyses were conducted using two...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.