Article
Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.
Prenatal diagnosis - 1 Mar 2024
Desnous Beatrice, Carles Guillaume, Riccardi Florence, Stremler Nathalie, Baravalle Melissa, El-Louali Fedouah, Testud Benoit, Milh Mathieu
Abstract excerpt
BACKGROUND: Most periventricular nodular heterotopias (PNHs) are associated with a mutation in the filamin A (FLNA) gene in Xq28. This condition is associated with cardiovascular malformations, connective tissue abnormalities, epilepsy, and intellectual deficiency of varying severity. MATERIALS AND METHODS: We report a new FLNA gene mutation in a male patient associated with PNH and diffuse interstitial lung...
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