Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome

We describe an 8-year-old Japanese boy with a de novo recurrent missense mutation in CSNK2A1, c.593A>G, that is causative of Okur–Chung neurodevelopmental syndrome. He exhibited distinctive facial features, severe growth retardation with relative macrocephaly, and friendly, hyperactive behavior....

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Akahira-Azuma, Moe, Tsurusaki, Yoshinori, Enomoto, Yumi, Mitsui, Jun, Kurosawa, Kenji
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2018
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5874396/
https://ncbi.nlm.nih.gov/pubmed/29619237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2018.11
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados