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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… Click to show full abstract
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).
Keywords:
nedd4l variant;
periventricular nodular;
familial nedd4l;
nodular heterotopia
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018
Link to full text (if available)
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recommendations!