Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures

BACKGROUND: Mutations in the HECT domain of NEDD4L have recently been identified in a cohort of eight patients with a syndromic form of bilateral periventricular nodular heterotopia (PVNH) in association with neurodevelopmental delay, cleft palate, and toe syndactyly (PVNH7). METHODS: Case report ba...

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Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: Elbracht, Miriam, Kraft, Florian, Begemann, Matthias, Holschbach, Petra, Mull, Michael, Kabat, Ildiko M., Müller, Britta, Häusler, Martin, Kurth, Ingo, Hehr, Ute
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2018
Subjects:
Clinical Reports
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305664/
https://ncbi.nlm.nih.gov/pubmed/30393983
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.490
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