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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Detalles Bibliográficos
Publicado en:J Endocr Soc
Autores principales: Miao, Hui, Zhu, Huijuan, Gong, Fengying, Yang, Hongbo, Wang, Linjie, Lu, Lin, Chen, Shi, Liang, Hanting, Yuan, Xianxian, Pan, Hui
Formato: Artigo
Lenguaje:Inglês
Publicado: Endocrine Society 2019
Materias:
Genetics and Development (including Gene Regulation)
Acceso en línea: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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