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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發表在:Front Genet
Main Authors: Stouffs, Katrien, Verloo, Patrick, Brock, Stefanie, Régal, Luc, Beysen, Diane, Ceulemans, Berten, Jansen, Anna C., Meuwissen, Marije E.C.
格式: Artigo
語言:Inglês
出版: Frontiers Media S.A. 2020
主題:
Genetics
在線閱讀: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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