A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia

por Guo, Bing-Bing, Jin, Jie-Yuan, Yuan, Zhuang-Zhuang, Zeng, Lei, Xiang, Rong
Publicado 2021

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome

por Wang, Chenyu, Lin, Zhaojing, Yuan, ZhuangZhuang, Tang, Tieyu, Fan, Liangliang, Liu, Yihui, Wu, Xuan
Publicado 2023

A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient

por Yuan, Zhuang-Zhuang, Fan, Liang-Liang, Jiang, Zi-Chen, Yang, Yi-Feng, Tan, Zhi-Ping
Publicado 2020

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism

por Yuan, Zhuang-Zhuang, Yu, Fang, Jin, Jie-Yuan, Jiao, Zi-Jun, Tang, Ju-Yu, Xiang, Rong
Publicado 2020

Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy

por Fan, Liang-Liang, Yuan, Zhuang-Zhuang, Jiao, Zi-Jun, Zeng, Hui, Yang, Yi-Feng, Tan, Zhi-Ping
Publicado 2022

Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome

por Yuan, Zhuang-Zhuang, Xie, Xiao-Hui, Gu, Heng, Zhang, Wei-Zhi, Hu, Yi-Qiao, Yang, Yi-Feng, Tan, Zhi-Ping
Publicado 2021

Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain

por Xie, Xiao-hui, Tang, Jian-guang, Liu, Zhong-hua, Peng, Shui-jiao, Yuan, Zhuang-zhuang, Gu, Heng, Hu, Yi-qiao, Tan, Zhi-ping
Publicado 2021

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family

por Jin, Jie-Yuan, Wu, Pan-Feng, He, Ji-Qiang, Fan, Liang-Liang, Yuan, Zhuang-Zhuang, Pang, Xiao-Yang, Tang, Ju-Yu, Zhang, Li-Yang
Publicado 2020