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

Elbracht, Miriam ; Kraft, Florian ; Begemann, Matthias ; Holschbach, Petra ; Mull, Michael ; Kabat, Ildiko M. ; Müller, Britta ; Häusler, Martin ; Kurth, Ingo ; Hehr, Ute


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 based on NGS sequencing. Results Here, we describe a girl with a novel heterozygous NEDD4L missense ...


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