Cargando…
Exploring the behavioral and cognitive phenotype of KBG syndrome
KBG syndrome is a neurodevelopmental disorder, caused by dominant mutations in ANKRD11, that is characterized by developmental delay/intellectual disability, mild craniofacial dysmorphisms, and short stature. Behavior and cognition have hardly been studied, but anecdotal evidence suggests higher fre...
Autores principales: | van Dongen, Linde C.M., Wingbermühle, Ellen, van der Veld, William M., Vermeulen, Karlijn, Bos‐Roubos, Anja G., Ockeloen, Charlotte W., Kleefstra, Tjitske, Egger, Jos I.M. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850621/ https://www.ncbi.nlm.nih.gov/pubmed/30786142 http://dx.doi.org/10.1111/gbb.12553 |
Ejemplares similares
-
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study
por: van Dongen, Linde C. M., et al.
Publicado: (2017) -
Behavior and cognitive functioning in Witteveen–Kolk syndrome
por: van Dongen, Linde C. M., et al.
Publicado: (2020) -
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) -
Exploring the cognitive phenotype of Kabuki (Niikawa–Kuroki) syndrome
por: van Dongen, L. C. M., et al.
Publicado: (2019) -
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
por: Ockeloen, Charlotte W, et al.
Publicado: (2015)