Article
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Proceedings of the National Academy of Sciences of the United States of America - 14 Oct 2003
Lehmann Katarina, Seemann Petra, Stricker Sigmar, Sammar Marai, Meyer Birgit, Süring Katrin, Majewski Frank, Tinschert Sigrid, Grzeschik Karl-Heinz, Müller Dietmar, Knaus Petra, Nürnberg Peter, Mundlos Stefan
Abstract excerpt
Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the first and second toes. We performed linkage analysis in two unrelated German families and mapped a locus for BD type A2 to 4q21-q25. This interval includes the gene bone morphogenetic protein receptor 1B (BMPR1B), a...
Topics
Join the communities discussing this publication.