Article
The male phenotype in osteopathia striata congenita with cranial sclerosis.
American journal of medical genetics. Part A - 1 Oct 2011
Holman Sarah K, Daniel Phil, Jenkins Zandra A, Herron Rachel L, Morgan Tim, Savarirayan Ravi, Chow C W, Bohring Axel, Mosel Annette, Lacombe Didier, Steiner Bernhard, Schmitt-Mechelke Thomas, Schroter Barbara, Raas-Rothschild Annick, Miñaur Sixto Garcia, Porteous Mary, Parker Michael, Quarrell Oliver, Tapon Dagmar, Cormier-Daire Valérie, Mansour Sahar, Nash Ruth, Bindoff Laurence A, Fiskerstrand Torunn, Robertson Stephen P
Abstract excerpt
Osteopathia striata with cranial sclerosis (OSCS) is an X-linked disease caused by truncating mutations in WTX. Females exhibit sclerotic striations on the long bones, cranial sclerosis, and craniofacial dysmorphism. Males with OSCS have significant skeletal sclerosis, do not have striations but do display a more severe phenotype commonly associated with gross structural malformations, patterning defects, and...
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