Article
Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.
Clinical genetics - 1 Oct 2011
Perdu B, Lakeman P, Mortier G, Koenig R, Lachmeijer A M A, Van Hul W
Abstract excerpt
Osteopathia striata with cranial sclerosis (OMIM ##300373) is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae. In males this entity is usually associated with foetal or neonatal lethality, because of...
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