Cargando…

Behavior and cognitive functioning in Witteveen–Kolk syndrome

Witteveen–Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder characterized by developmental delay/intellectual disability, facial dysmorphisms, and short stature. The syndrome is caused by loss of function of switch‐insensitive 3 transcription regulator family member A (SIN3A). Regarding b...

Descripción completa

Detalles Bibliográficos
Autores principales: van Dongen, Linde C. M., Wingbermühle, Ellen, Dingemans, Alexander J. M., Bos‐Roubos, Anja G., Vermeulen, Karlijn, Pop‐Purceleanu, Monica, Kleefstra, Tjitske, Egger, Jos I. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540409/
https://www.ncbi.nlm.nih.gov/pubmed/32783353
http://dx.doi.org/10.1002/ajmg.a.61775

Ejemplares similares