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Germline mutations in HRAS proto-oncogene cause Costello syndrome

โœ Scribed by Aoki, Yoko (author);Niihori, Tetsuya (author);Kawame, Hiroshi (author);Kurosawa, Kenji (author);Ohashi, Hirofumi (author);Tanaka, Yukichi (author);Filocamo, Mirella (author);Kato, Kumi (author);Suzuki, Yoichi (author);Kure, Shigeo (author);Matsubara, Yoichi (author)

Book ID
109919235
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
239 KB
Volume
37
Category
Article
ISSN
1061-4036

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## Communicated by Haig H. Kazazian Costello syndrome (CS) is a rare congenital condition caused by heterozygous de novo missense mutations affecting the codon for glycine 12 or 13 of the HRAS gene. We have identified 39 CS patients harboring the p.Gly12Ser mutation (NM\_005343.2:c.34 G4A), two pa