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

• Published in: Journal of genetics and genomics Vol. 48; no. 5; pp. 396 - 402
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: China Elsevier Ltd 20.05.2021
• Subjects: Adolescent; Alleles; Child; Child, Preschool; childhood; China; Disease Management; DNA Copy Number Variations; Dwarfism - diagnosis; Dwarfism - genetics; Exome; Exome sequencing; Female; Genes and growth; Genetic Association Studies - methods; Genetic Predisposition to Disease; Genetic Testing; genomics; Genotype; Humans; Male; Molecular diagnosis; Mutation; Odds Ratio; Phenotype; Polymorphism, Single Nucleotide; Short stature; Syndrome; Variants; Whole Exome Sequencing; China; Short stature; Variants; Molecular diagnosis; Exome sequencing; Genes and growth

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 architectur...