Identification of a Novel FOXP1 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 FOXP1, due to deleterious variants (point mutations, copy number variants) disrupti...

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Detalles Bibliográficos
Autores principales: Benvenuto, Mario, Palumbo, Pietro, Di Muro, Ester, Perrotta, Concetta Simona, Mazza, Tommaso, Mandarà, Giuseppa Maria Luana, Palumbo, Orazio, Carella, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606110/
https://www.ncbi.nlm.nih.gov/pubmed/37895307
http://dx.doi.org/10.3390/genes14101958

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606110/
https://www.ncbi.nlm.nih.gov/pubmed/37895307
http://dx.doi.org/10.3390/genes14101958

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