Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

BACKGROUND: Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 micro...

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Detalles Bibliográficos
Publicado en:Mol Genet Genomic Med
Autores principales: Shimbo, Hiroko, Yokoi, Takayuki, Aida, Noriko, Mizuno, Seiji, Suzumura, Hiroshi, Nagai, Junichi, Ida, Kazumi, Enomoto, Yumi, Hatano, Chihiro, Kurosawa, Kenji
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2017
Materias:
Clinical Reports
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5511803/
https://ncbi.nlm.nih.gov/pubmed/28717667
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.289
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