Cargando…
Speech‐language profiles in the context of cognitive and adaptive functioning in SATB2‐associated syndrome
SATB2‐associated syndrome (SAS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the SATB2 gene, and is typically characterized by intellectual disability and severely impaired communication skills. The goal of this study was to contribute to the understanding of speech...
Autores principales: | Snijders Blok, Lot, Goosen, Y. Max, van Haaften, Leenke, van Hulst, Karen, Fisher, Simon E., Brunner, Han G., Egger, Jos I. M., Kleefstra, Tjitske |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9285502/ https://www.ncbi.nlm.nih.gov/pubmed/34241948 http://dx.doi.org/10.1111/gbb.12761 |
Ejemplares similares
-
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities
por: Snijders Blok, Lot, et al.
Publicado: (2020) -
Process-Oriented Profiling of Speech Sound Disorders
por: Diepeveen, Sanne, et al.
Publicado: (2022) -
Editorial: Treatment of psychopathological and neurocognitive disorders in genetic syndromes: In need of multidisciplinary phenotyping and treatment design
por: Egger, Jos, et al.
Publicado: (2022) -
Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2
por: Verhoeven, Willem MA, et al.
Publicado: (2016) -
Feeding Problems in Patients with Noonan Syndrome: A Narrative Review
por: Tiemens, Dagmar K., et al.
Publicado: (2022)