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Article

A Novel Mutation of Filamin A Gene in a Chinese Family with Periventricular Nodular Heterotopia.

Chinese medical journal - 20 Sept 2016

Zhou Wei-Dong, Liu Cheng-Hao, Yin Xiao-Min, Zeng Qing-Yu

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Identifiers

PMID: 27625105
DOI: 10.4103/0366-6999.189902
PMCID: PMC5022354

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A Novel Mutation of Filamin A Gene in a Chinese Family with Periventricular Nodular Heterotopia.PMID 27625105Read ↗

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Filamin A gene mutation in an infant with progressive pulmonary emphysema, periventricular nodular heterotopia and congenital heart disease.Semantic proximity Read ↗

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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.Semantic proximity Read ↗

Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.Semantic proximity Read ↗

47 patients with FLNA associated periventricular nodular heterotopia.Semantic proximity Read ↗

Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature.Semantic proximity Read ↗

Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.Semantic proximity Read ↗

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