Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome

An unreported missense mutation of the ribosomal S6 kinase 2 (RSK2) gene has been identified in two male sibs with a mild form of Coffin-Lowry syndrome (CLS) inherited from their healthy mother. They exhibit transient severe hypotonia, macrocephaly, delay in closure of the fontanelles, normal gait,...

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Detalhes bibliográficos
Main Authors: Manouvrier-Hanu, S, Amiel, J, Jacquot, S, Merienne, K, Moerman, A, Coeslier, A, Labarriere, F, Vallee, L, Croquette, M, Hanauer, A
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 1999
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734232/
https://ncbi.nlm.nih.gov/pubmed/10528858
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