The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation

The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation

Objective: Mutations in the ACAN gene have been reported to cause short stature. However, the prevalence estimates of pathogenic ACAN variants in individuals with short stature vary, and the correlation between ACAN genotype and clinical phenotype remain to be evaluated. To determine the prevalence...

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Bibliographic Details
Main Authors: Su Wu, Chunli Wang, Qing Cao, Ziyang Zhu, Qianqi Liu, Xinyan Gu, Bixia Zheng, Wei Zhou, Zhanjun Jia, Wei Gu, Xiaonan Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Genetics
Subjects:
ACAN gene
short stature
variants
genotypes and phenotypes
genetic analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.891040/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.891040/full

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