[Clinical phenotypes and genetic analysis of five children with Lamb-Shaffer syndrome due to novel variants of SOX5 gene] [0.03%]
SOX5基因新型变异导致的5例Lamb-Shaffer综合征患者的临床表型及遗传分析
Ziyan Zhang,Yaxue Xie,Ping Pang et al.
Ziyan Zhang et al.
Objective: To explore the clinical phenotypes and genetic characteristics of five children with Lamb-Shaffer syndrome (LAMSHF). Methods: ...
[Key points of the International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with Achondroplasia] [0.03%]
[与软骨发育不全患者肢端生长素vosoritide治疗实施和监测相关的国际共识指南重点]
Hangyu Ping,Ran Ding,Cheng Huang et al.
Hangyu Ping et al.
Achondroplasia (ACH) is a common inherited skeletal dysplasia (inherited dwarfism) that compromises quality of life across the lifespan. In 2021, vosoritide became the first approved precision therapy for ACH and is now available in more th...
[Clinical Genetics has become an indispensable discipline of modern medicine] [0.03%]
[临床遗传学已经成为现代医学不可或缺的学科]
Chaoping Hu,Taosheng Huang
Chaoping Hu
[Genetic analysis of a family with inheritary coagulation factor Ⅹ deficiency due to compound heterozygous variants p.Phe71Ser and p.Val424Phe] [0.03%]
复合杂合变异p.Phe71Ser和p.Val424Phe导致的凝血因子X遗传性缺乏症家系的基因分析
Shuangnyu Lin,Bile Chen,Zuoting Xie et al.
Shuangnyu Lin et al.
Objective: To analyze the phenotype and genotype of a family with hereditary coagulation factor Ⅹ (FⅩ) deficiency and preliminarily explore its molecular pathogenesis. ...
[Analysis of a Chinese pedigree affected with hereditary factor Ⅶ deficiency due to compound heterozygous variants of F7 gene] [0.03%]
[C7缺乏症复合杂合变异F7基因家系分析]
Fei Xu,Anqing Zou,Haixiao Xie et al.
Fei Xu et al.
Objective: To investigate the molecular pathogenic mechanisms of a family with hereditary factor Ⅶ (FⅦ) deficiency. Methods: A family...
[Analysis of clinical and genetic characteristics in a patient with Beck-Fahrner syndrome due to a frameshift variant of TET3 gene] [0.03%]
TET3基因frameshift变异所致Beck-Fahrner综合征1例临床与遗传特征分析
Xiaoyan Xuan,Xiaoke Zhao,Jun Li
Xiaoyan Xuan
Objective: To explore the clinical and genetic characteristics of a patient with Beck-Fahrner syndrome attributed to a TET3 gene variants. Methods: ...
[Genetic analysis of a Chinese pedigree affected with complex chromosomal structural variants] [0.03%]
中国复杂染色体重排家系的基因分析
Yabing Zhang,Jiao Liu,Tingting Ji et al.
Yabing Zhang et al.
Objective: To explore the mechanism and clinical manifestations of a case with complex structural variations involving chromosomes 5, 7, and 14, and assess the value of Chromosome conformation-based karyotyping (C-MoKa) f...
[Clinical phenotype and genetic analysis of a patient with Oocyte maturation defect due to a novel variant of PATL2 gene] [0.03%]
PATL2基因新变异导致的卵母细胞成熟障碍患者的临床表型和遗传分析
Fangzhu Wang,Yali Ni,Lin Zhang et al.
Fangzhu Wang et al.
Objective: To investigate the clinical phenotype and genetic etiology of a patient with primary infertility accompanied by Oocyte maturation defect (OOMD). ...
[Pathogenicity analysis of a novel PADI6 gene variant associated with female infertility] [0.03%]
[PADI6基因新变异导致女性不孕的致病性分析]
Lingxiao Zhou,Jia Huang,Jingyuan Wang et al.
Lingxiao Zhou et al.
Objective: To investigate the clinical phenotype and genetic characteristics of an infertile woman carrying a novel PADI6 gene variant. Methods: ...
[Prenatal genetic analysis of a fetus with 21-hydroxylase deficiency due to compound heterozygous variants of CYP21A2 gene] [0.03%]
CYP21A2复合杂合变异所致21-羟化酶缺乏症胎儿的产前基因分析
Weiguo Zhang,Jun Wang,Feiyan Pan et al.
Weiguo Zhang et al.
Objective: To investigate the clinical phenotype and genetic diagnosis process of fetuses with 21 hydroxylase deficiency (21-OHD) caused by compound heterozygous variant of the CYP21A2 gene . ...