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Somatic mosaicism for an HRAS mutation causes Costello syndrome

✍ Scribed by Karen W. Gripp; Deborah L. Stabley; Linda Nicholson; Jodi D. Hoffman; Katia Sol-Church


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
339 KB
Volume
140A
Category
Article
ISSN
1552-4825

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DK phocomelia (von Voss-Cherstvoy syndrome) is a rare condition characterized by radial ray defects, occipital encephalocoele, and urogenital abnormalities. Lubinsky et al. [1994: Am J Med Genet 52:272-278] pointed out similarities between this and the del(13q) syndrome. To date, all reported cases