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...

תיאור מלא

מידע ביבליוגרפי

Principais autores:	Shuyun Deng, Lele Hou, Dan Xia, Xiaojuan Li, Xiaofang Peng, Xiaoqin Xiao, Jieming Zhang, Zhe Meng, Lina Zhang, Nengtai Ouyang, Liyang Liang
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Frontiers Media S.A. 2022-10-01
סדרה:	Frontiers in Endocrinology
נושאים:	short stature ACAN mutation genotype-phenotype correlation phenotypic spectrum growth-promoting treatment
גישה מקוונת:	https://www.frontiersin.org/articles/10.3389/fendo.2022.1015954/full
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