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Article

Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.

Molecular genetics & genomic medicine - 1 Jul 2023

Liu Juan, Hu Jihong, Duan Yaqing, Qin Rong, Guo Chunguang, Zhou Hongtao, Liu Hua, Liu Chunlei

Abstract excerpt

BACKGROUND: Neurodevelopmental disorders associated with periventricular nodular heterotopia (PVNH) are characterized by phenotypic and genetic heterogeneity. NEDD4L mutation can lead to PVNH7. However, at present, only eight NEDD4L pathogenic variants have been identified across 15 cases of PVNH7 worldwide. Given this dearth of evidence, the precise correlations between genetic pathogenesis and phenotypes remain...

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PMID: 36934385
DOI: 10.1002/mgg3.2169
PMCID: PMC10337284

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