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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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Bibliografski detalji
Glavni autori: Ramocki, Melissa B., Scaglia, Fernando, Stankiewicz, Pawel, Belmont, John W., Jones, Jeremy Y., Clark, Gary D.
Format: Artigo
Jezik:Inglês
Izdano: 2011
Teme:
Online pristup: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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