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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Manouvrier-Hanu, S, Amiel, J, Jacquot, S, Merienne, K, Moerman, A, Coeslier, A, Labarriere, F, Vallee, L, Croquette, M, Hanauer, A
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 1999
Pynciau:
Short Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734232/
https://ncbi.nlm.nih.gov/pubmed/10528858
Tagiau: Ychwanegu Tag
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