Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality

Abstract Background TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities (MIM 619243), is a rare autosomal dominant genetic disease mainly characterized by facial dysmorphism, developmental delay/intellectual disability (DD/ID), speech and lan...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2024-02-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	novel de novo variants novel phenotype TNRC6B gene TNRC6B deficiency syndrome
Acesso em linha:	https://doi.org/10.1002/mgg3.2408
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!