In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

BACKGROUND: Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder: childhood apraxia of speech (CAS), and yet few cases have been reported, limiting knowledge of the condition. METHODS: Here we phenotyped 28 individuals from 17 families with pathogeni...

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Detalles Bibliográficos
Autores principales: Morison, Lottie D, Meffert, Elisabeth, Stampfer, Miriam, Steiner-Wilke, Irene, Vollmer, Brigitte, Schulze, Katrin, Briggs, Tracy, Braden, Ruth, Vogel, Adam, Thompson-Lake, Daisy, Patel, Chirag, Blair, Edward, Goel, Himanshu, Turner, Samantha, Moog, Ute, Riess, Angelika, Liegeois, Frederique, Koolen, David A, Amor, David J, Kleefstra, Tjitske, Fisher, Simon E, Zweier, Christiane, Morgan, Angela T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Cognitive and Behavioural Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10314088/
https://www.ncbi.nlm.nih.gov/pubmed/36328423
http://dx.doi.org/10.1136/jmg-2022-108734

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