Article
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.
American journal of human genetics - 1 Jun 2004
Wieland Ilse, Jakubiczka Sibylle, Muschke Petra, Cohen Monika, Thiele Hannelore, Gerlach Klaus L, Adams Ralf H, Wieacker Peter
Abstract excerpt
Craniofrontonasal syndrome (CFNS) is an X-linked craniofacial disorder with an unusual manifestation pattern, in which affected females show multiple skeletal malformations, whereas the genetic defect causes no or only mild abnormalities in male carriers. Recently, we have mapped a gene for CFNS in the pericentromeric region of the X chromosome that contains the EFNB1 gene, which encodes the ephrin-B1 ligand for...
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