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Recurrent Partial Rhombencephalosynapsis and Holoprosencephaly in Siblings with a Mutation of ZIC2

Rhombencephalosynapsis (RES) is a rare congenital brain malformation typically identified by magnetic resonance imaging and characterized by fusion of the cerebellar hemispheres and dentate nuclei and vermian agenesis or hypogenesis. Although RES is frequently found in conjunction with other brain m...

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Detalhes bibliográficos
Main Authors: Ramocki, Melissa B., Scaglia, Fernando, Stankiewicz, Pawel, Belmont, John W., Jones, Jeremy Y., Clark, Gary D.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3121908/
https://ncbi.nlm.nih.gov/pubmed/21638761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34029
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