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Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

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Title: Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.
Authors: Parra, Alejandro1,2,3,4 (AUTHOR), Jimenez‐Estrada, Juan A.1,2,3 (AUTHOR), Vásquez‐Amell, Valeria2 (AUTHOR), Cazalla, Mario1,2,3,4 (AUTHOR), Rodríguez‐Canó, Manuel1,2,3,4 (AUTHOR), Gallego‐Zazo, Natalia1,2,3 (AUTHOR), Miranda, Lucia1,2,3,4 (AUTHOR), Mora‐Gómez, Mónica1,2,3,4 (AUTHOR), Vallespín, Elena1,2 (AUTHOR), Mena, Rocío1,2 (AUTHOR), Fernández, Luis1,2 (AUTHOR), Silván, Cristina2 (AUTHOR), Arias, Pedro1,2,3 (AUTHOR), Dominguez‐Jiménez, Marta5 (AUTHOR), Guillén‐Navarro, Encarna1,5 (AUTHOR), Nevado, Julián1,2,3 (AUTHOR), Tenorio‐Castano, Jair1,2,3 (AUTHOR), Ruiz‐Pérez, Víctor L.1,6 (AUTHOR), Lapunzina, Pablo1,2,3 (AUTHOR) pablo.lapunzina@salud.madrid.org
Source: Clinical Genetics. Aug2025, Vol. 108 Issue 2, p224-226. 3p.
Database: Academic Search Ultimate
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Description
ISSN:00099163
DOI:10.1111/cge.14761