A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and susceptibility to disease. Sotos syndrome is characterized by overgrowth, macrocephaly, developmental delay and advanced osseous maturation. Haploinsufficiency of NSD1, caused by inactivating point muta...

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Detalhes bibliográficos
Main Authors: Franco, Luis M, de Ravel, Thomy, Graham, Brett H, Frenkel, Stephanie M, Van Driessche, Jozef, Stankiewicz, Pawel, Lupski, James R, Vermeesch, Joris R, Cheung, Sau Wai
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987195/
https://ncbi.nlm.nih.gov/pubmed/19844260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.164
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