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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Genes Brain Behav
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Blackwell Publishing Ltd 2019
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6850621/
https://ncbi.nlm.nih.gov/pubmed/30786142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/gbb.12553
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky