Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures
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DOI: 10.1002/mgg3.490
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… read more here.
Keywords: nedd4l variant; periventricular nodular; familial nedd4l; nodular heterotopia ... See more keywords