Beyond Gómez-López-Hernández Syndrome: Recurring Phenotypic Themes in Rhombencephalosynapsis

Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with Gómez-López-Hernández syndrome, RES also occurs in conjunction with VACTERL features and with holoprosencephaly (HPE)...

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Main Authors: Tully, Hannah M, Dempsey, Jennifer C, Ishak, Gisele E, Adam, Margaret P, Curry, Cynthia JR, Sanchez-Lara, Pedro, Hunter, Alasdair, Gripp, Karen W, Allanson, Judith, Cunniff, Christopher, Glass, Ian, Millen, Kathleen J, Doherty, Daniel, Dobyns, William B
Formato: Artigo
Idioma:Inglês
Publicado: 2012
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3448816/
https://ncbi.nlm.nih.gov/pubmed/22965664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35561
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