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Article

Cardiovascular, Brain, and Lung Involvement in a Newborn With a Novel FLNA Mutation: A Case Report and Literature Review.

Advances in neonatal care : official journal of the National Association of Neonatal Nurses - 1 Apr 2022

Meliota Giovanni, Vairo Ugo, Ficarella Romina, Milella Leonardo, Faienza Maria Felicia, D'Amato Gabriele

Abstract excerpt

BACKGROUND: Filamin A (FLNA) is an intracellular actin-binding protein, encoded by the FLNA gene, with a wide tissue expression. It is involved in several cellular functions, and extracellular matrix structuring. FLNA gene alterations lead to diseases with a wide phenotypic spectrum, such as brain periventricular nodular heterotopia (PVNH), cardiovascular abnormalities, skeletal dysplasia, and lung involvement....

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Identifiers

PMID: 33852449
DOI: 10.1097/ANC.0000000000000878

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Cardiovascular, Brain, and Lung Involvement in a Newborn With a Novel FLNA Mutation: A Case Report and Literature Review.PMID 33852449Read ↗

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