A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature

A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature

Abstract Background Pathogenic variants of ANKRD11 have been reported to cause KBG syndrome characterized by short stature, characteristic facial appearance, intellectual disability, macrodontia, and skeletal anomalies. However, the direct clinical relevance of ANKRD11 mutation with short stature is...

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Bibliographic Details
Main Authors: Yabin Kang, Dongye He, Yanying Li, Yanhong Zhang, Qian Shao, Mei Zhang, Bo Ban
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ANKRD11
height growth
heterozygous point mutation
idiopathic short stature
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.988

Internet

https://doi.org/10.1002/mgg3.988

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