Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.

doi:10.1016/j.jgg.2021.02.008

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Article

Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.

Journal of genetics and genomics = Yi chuan xue bao - 20 May 2021

Fan Xin, Zhao Sen, Yu Chenxi, Wu Di, Yan Zihui, Fan Lijun, Song Yanning, Wang Yi, Li Chuan, Ming Yue, Gui Baoheng, Niu Yuchen, Li Xiaoxin, Yang Xinzhuang, Luo Shiyu, Zhang Qiang, Zhao Xiuli, Pan Hui, Li Mei, Xia Weibo, Qiu Guixing, Liu Pengfei, Zhang Shuyang, Zhang Jianguo, Wu Zhihong, Lupski James R, Posey Jennifer E, Chen Shaoke, Gong Chunxiu, Wu Nan

Abstract excerpt

Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations. Although the diagnostic utility of clinical genetic testing in short stature has been implicated, the genetic architecture and the utility of genomic studies such as exome sequencing (ES) in a sizable cohort of patients with short...

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PMID: 34006472
DOI: 10.1016/j.jgg.2021.02.008

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