Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel ACAN heterozygous variants in eight Chinese children and a review of the literature

Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel ACAN heterozygous variants in eight Chinese children and a review of the literature

ObjectiveThis study analyzed eight Chinese short stature children with aggrecan deficiency, and aimed to investigate potential genotype–phenotype correlations, differences in clinical characteristics between the Chinese and the Western populations, and effectiveness of recombinant human growth hormo...

Full description

Bibliographic Details
Main Authors: Shuyun Deng, Lele Hou, Dan Xia, Xiaojuan Li, Xiaofang Peng, Xiaoqin Xiao, Jieming Zhang, Zhe Meng, Lina Zhang, Nengtai Ouyang, Liyang Liang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Endocrinology
Subjects:
short stature
ACAN mutation
genotype-phenotype correlation
phenotypic spectrum
growth-promoting treatment
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.1015954/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2022.1015954/full

Similar Items