Phenotypic comparison of patients affected with DeSanto‐Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC

Abstract Introduction DeSanto‐Shinawi syndrome is a rare neurodevelopmental disorder caused by loss‐of‐function variants of WAC, located on chromosome 10p12.1. This syndrome is characterized by dysmorphic facial features, intellectual disability, and behavioral problems. Case report In this case rep...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Cristina Toledo‐Gotor, Cristina García‐Muro, Alberto García‐Oguiza, Mª. Luisa Poch‐Olivé, Mª. Yolanda Ruiz‐del Prado, Elena Domínguez‐Garrido
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2022-05-01
Colecção:Molecular Genetics & Genomic Medicine
Assuntos:
10p deletion
array CGH
DeSanto‐Shinawi syndrome
global developmental delay
WAC
Acesso em linha:https://doi.org/10.1002/mgg3.1910
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados