Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay

Haploinsufficiency of the gene encoding the insulin-like growth factor 1 receptor (IGF1R), either caused by telomeric 15q26 deletions, or by heterozygous point mutations in IGF1R, segregate with short stature and various other phenotypes, including microcephaly and dysmorphic facial features. Psycho...

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Detalhes bibliográficos
Main Authors: Witsch, Jens, Szafranski, Przemyslaw, Chen, Chun-An, Immken, LaDonna, Simpson Patel, Gayle, Hixson, Patricia, Cheung, Sau Wai, Stankiewicz, Pawel, Schaaf, Christian P
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3798847/
https://ncbi.nlm.nih.gov/pubmed/23486542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.42
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