Spectrum of NSD1 mutations in Sotos and Weaver syndromes

Interestingly, mental retardation was consistently more severe in patients with NSD1 deletions. Macrocephaly and facial gestalt but not overgrowth and advanced bone age were consistently observed in Sotos syndrome patients. We suggest therefore considering macrocephaly and facial gestalt as mandator...

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Detalhes bibliográficos
Main Authors: Rio, M, Clech, L, Amiel, J, Faivre, L, Lyonnet, S, Le Merrer, M, Odent, S, Lacombe, D, Edery, P, Brauner, R, Raoul, O, Gosset, P, Prieur, M, Vekemans, M, Munnich, A, Colleaux, L, Cormier-Daire, V
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2003
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735492/
https://ncbi.nlm.nih.gov/pubmed/12807965
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.6.436
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