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

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...

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Bibliographic Details
Main Authors: Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo
Format: Article
Language:English
Published: Wiley 2024-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
novel de novo variants
novel phenotype
TNRC6B gene
TNRC6B deficiency syndrome
Online Access:https://doi.org/10.1002/mgg3.2408

Internet

https://doi.org/10.1002/mgg3.2408

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