Article
[Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 May 2022
Lin H, Yang H, Fu J F, Yuan K, Huang W, Wu G P, Dong G J, Tian D H, Wu D X, Tang D W, Wu L Y, Sun Y L, Pi L J, Liu L P, Shi W, Gu L G, Huang Z H, Wang L Q, Chen H Y, Li Y, Yu H Y, Wei X R, Cheng X O, Shan Y, Liu X, Xu S, Liu X P, Luo Y F, Xiao Y, Yang G M, Li M, Feng X Q, Ma D X, Pan J Y, Tang R M, Chen Ruimin, Maimaiti D Y, Liu X H, Cui Z, Su Z Q, Dong L, Zou Y L, Liu J, Wu K X, Li Y, Li Yuan
Abstract excerpt
Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed...
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