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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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  Data: Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.
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  Data: <searchLink fieldCode="JN" term="%22Clinical+Genetics%22">Clinical Genetics</searchLink>. Aug2025, Vol. 108 Issue 2, p224-226. 3p.
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