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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

OBJECTIVE: This 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 hor...

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Detalles Bibliográficos
Autores principales:	Deng, Shuyun, Hou, Lele, Xia, Dan, Li, Xiaojuan, Peng, Xiaofang, Xiao, Xiaoqin, Zhang, Jieming, Meng, Zhe, Zhang, Lina, Ouyang, Nengtai, Liang, Liyang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649928/ https://www.ncbi.nlm.nih.gov/pubmed/36387899 http://dx.doi.org/10.3389/fendo.2022.1015954

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