Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report

por Yang, Xi, Yuan, Mingming, Li, Zhuoguang, Ying, Yanqin, Hou, Ling, Luo, Xiaoping
Publicado 2021

Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome

por Li, Zhuoguang, Du, Caiqi, Zhang, Cai, Zhang, Mini, Ying, Yanqin, Liang, Yan, Luo, Xiaoping
Publicado 2020

A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review

por Zhao, Xiu, Li, Zhuoguang, Wang, Li, Lan, Zhangzhang, Lin, Feifei, Zhang, Wenyong, Su, Zhe
Publicado 2021

Analysis of the Screening Results for Congenital Adrenal Hyperplasia Involving 7.85 Million Newborns in China: A Systematic Review and Meta-Analysis

por Li, Zhuoguang, Huang, Lianjing, Du, Caiqi, Zhang, Cai, Zhang, Mini, Liang, Yan, Luo, Xiaoping
Publicado 2021

Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up

por Du, Caiqi, Wang, Feiya, Li, Zhuoguang, Zhang, Mini, Yu, Xiao, Liang, Yan, Luo, Xiaoping
Publicado 2022

Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children

por Du, Caiqi, Li, Zhuoguang, Zou, Biao, Li, Xuesong, Chen, Fan, Liang, Yan, Luo, Xiaoping, Shu, Sainan
Publicado 2023

Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib

por Du, Caiqi, Li, Zhuoguang, Wei, Hong, Zhang, Min, Hu, Minghui, Zhang, Cai, Luo, Xiaoping, Liang, Yan
Publicado 2021

Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia

por Li, Zhuoguang, Liang, Yan, Du, Caiqi, Yu, Xiao, Hou, Ling, Wu, Wei, Ying, Yanqing, Luo, Xiaoping
Publicado 2021

Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child

por Pan, Lili, Li, Zhuoguang, Su, Zhe, Su, Wei, Zheng, Rongfei, Chen, Weiyan, He, Xuezhi, Song, Jianming, Li, Shoulin, Wen, Pengqiang
Publicado 2022