Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and syndactyly. All reported variants are located...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Stouffs, Katrien, Verloo, Patrick, Brock, Stefanie, Régal, Luc, Beysen, Diane, Ceulemans, Berten, Jansen, Anna C., Meuwissen, Marije E.C.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7013364/
https://ncbi.nlm.nih.gov/pubmed/32117442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00026
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