[HTML][HTML] FOXP2-related speech and language disorder
A Morgan, SE Fisher, I Scheffer, M Hildebrand - 2017 - europepmc.org
FOXP2-related speech and language disorder (FOXP2-SLD) is caused by heterozygous
FOXP2 pathogenic variants (including whole-or partial-gene deletions). The core phenotype …
FOXP2 pathogenic variants (including whole-or partial-gene deletions). The core phenotype …
Severe speech impairment is a distinguishing feature of FOXP1‐related disorder
Aim To delineate the speech and language phenotype of a cohort of individuals with FOXP1‐
related disorder. Method We administered a standardized test battery to examine speech …
related disorder. Method We administered a standardized test battery to examine speech …
Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria
SJ Turner, MS Hildebrand, S Block… - American journal of …, 2013 - Wiley Online Library
Relatively little is known about the neurobiological basis of speech disorders although
genetic determinants are increasingly recognized. The first gene for primary speech disorder …
genetic determinants are increasingly recognized. The first gene for primary speech disorder …
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
LD Morison, E Meffert, M Stampfer… - Journal of medical …, 2023 - jmg.bmj.com
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 …
severe speech disorder: childhood apraxia of speech (CAS), and yet few cases have been …
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment
Heterozygous mutations in FOXP2, which encodes a forkhead transcription factor, have
been shown to cause developmental verbal dyspraxia and language impairment. FOXP2 …
been shown to cause developmental verbal dyspraxia and language impairment. FOXP2 …
Phenotype of FOXP2 haploinsufficiency in a mother and son
GM Rice, G Raca, KJ Jakielski, JJ Laffin… - American journal of …, 2012 - Wiley Online Library
Disruptions in FOXP2, a transcription factor, are the only known monogenic cause of speech
and language impairment. We report on clinical findings for two new individuals with a …
and language impairment. We report on clinical findings for two new individuals with a …
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
D Horn, J Kapeller, N Rivera‐Brugués, U Moog… - Human …, 2010 - Wiley Online Library
Abstract Mental retardation affects 2‐3% of the population and shows a high heritability.
Neurodevelopmental disorders that include pronounced impairment in language and …
Neurodevelopmental disorders that include pronounced impairment in language and …
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
Background Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are
the first known monogenic cause of a speech and language disorder. So far, mainly …
the first known monogenic cause of a speech and language disorder. So far, mainly …
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits
KD MacDermot, E Bonora, N Sykes, AM Coupe… - The American Journal of …, 2005 - cell.com
FOXP2, the first gene to have been implicated in a developmental communication disorder,
offers a unique entry point into neuromolecular mechanisms influencing human speech and …
offers a unique entry point into neuromolecular mechanisms influencing human speech and …
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders
E Sollis, P Deriziotis, H Saitsu, N Miyake… - Human …, 2017 - Wiley Online Library
The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared
functions in the development of many tissues, including the brain. However, while mutations …
functions in the development of many tissues, including the brain. However, while mutations …