Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development

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...

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Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 60(2022), 5 vom: 02. Mai, Seite 435-441
1. Verfasser:	Lin, H (VerfasserIn)
Weitere Verfasser:	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, Yuan
Format:	Online-Aufsatz
Sprache:	Chinese
Veröffentlicht:	2022
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	Journal Article Membrane Proteins CYP21A2 protein, human EC 1.14.14.16 Steroid 21-Hydroxylase 3-Oxo-5-alpha-Steroid 4-Dehydrogenase EC 1.3.99.5 SRD5A2 protein, human