Genotype‐phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

BACKGROUND: Costello syndrome (CS) is a rare multiple congenital abnormality syndrome, associated with failure to thrive and developmental delay. One of the more distinctive features in childhood is the development of facial warts, often nasolabial and in other moist body surfaces. Individuals with...

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Detalhes bibliográficos
Main Authors: Kerr, B, Delrue, M‐A, Sigaudy, S, Perveen, R, Marche, M, Burgelin, I, Stef, M, Tang, B, Eden, O B, O'Sullivan, J, De Sandre‐Giovannoli, A, Reardon, W, Brewer, C, Bennett, C, Quarell, O, M'Cann, E, Donnai, D, Stewart, F, Hennekam, R, Cavé, H, Verloes, A, Philip, N, Lacombe, D, Levy, N, Arveiler, B, Black, G
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564514/
https://ncbi.nlm.nih.gov/pubmed/16443854
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.040352
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