Identification of a Novel <i>FOXP1</i> Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment

Identification of a Novel <i>FOXP1</i> Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment

The FOXP subfamily includes four different transcription factors: FOXP1, FOXP2, FOXP3, and FOXP4, all with important roles in regulating gene expression from early development through adulthood. Haploinsufficiency of <i>FOXP1</i>, due to deleterious variants (point mutations, copy number...

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Bibliographic Details
Main Authors: Mario Benvenuto, Pietro Palumbo, Ester Di Muro, Concetta Simona Perrotta, Tommaso Mazza, Giuseppa Maria Luana Mandarà, Orazio Palumbo, Massimo Carella
Format: Article
Language:English
Published: MDPI AG 2023-10-01
Series:Genes
Subjects:
<i>FOXP1</i>
targeted resequencing
neurodevelopmental disorders
Online Access:https://www.mdpi.com/2073-4425/14/10/1958

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https://www.mdpi.com/2073-4425/14/10/1958

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