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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Detaylı Bibliyografya
Yayımlandı:J Endocr Soc
Asıl Yazarlar: Miao, Hui, Zhu, Huijuan, Gong, Fengying, Yang, Hongbo, Wang, Linjie, Lu, Lin, Chen, Shi, Liang, Hanting, Yuan, Xianxian, Pan, Hui
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Endocrine Society 2019
Konular:
Genetics and Development (including Gene Regulation)
Online Erişim: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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