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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Detalles Bibliográficos
Autores principales: Stouffs, Katrien, Verloo, Patrick, Brock, Stefanie, Régal, Luc, Beysen, Diane, Ceulemans, Berten, Jansen, Anna C., Meuwissen, Marije E.C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013364/
https://www.ncbi.nlm.nih.gov/pubmed/32117442
http://dx.doi.org/10.3389/fgene.2020.00026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013364/
https://www.ncbi.nlm.nih.gov/pubmed/32117442
http://dx.doi.org/10.3389/fgene.2020.00026

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