SUN-LB008 Clinical Phenotype and Genotype Analysis of Short Stature Patients with Skeletal Dysplasia

Background: Skeletal dysplasia is a frequent cause of congenital disproportionate short stature, and genetic defects of cartilage extracellular matrix (ECM) affect growth plate structure and functions. However, precise diagnosis remains difficult due to high heterogeneity of phenotypes. Objective: W...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Miao, Hui, Zhu, Huijuan, Gong, Fengying, Yang, Hongbo, Wang, Linjie, Lu, Lin, Chen, Shi, Liang, Hanting, Yuan, Xianxian, Pan, Hui
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Genetics and Development (including Gene Regulation)
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553320/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-LB008
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