[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 . ...
[Genetic analysis of a Chinese pedigree affected with Epidermolysis bullosa simplex due to a novel variant of KRT5 gene] [0.03%]
[KRT5基因新变异导致的单纯性大疱性表皮松解症家系的基因分析]
Shaoguang Lyu,Fang Liu,Zhifang Du et al.
Shaoguang Lyu et al.
Objective: To investigate the clinical characteristics and genetic etiology of eight members from a pedigree affected with epidermolysis bullosa (EB). Met...
[Clinical and genetic analysis of a Chinese pedigree affected with Vissers-Bodmer syndrome due to variant of CNOT1 gene and a literature review] [0.03%]
CNOT1基因突变所致Vissers-Bodmer综合征1例临床及遗传特征分析并文献复习
Yake Jiao,Shuhua Yuan,Yongzhen Xue et al.
Yake Jiao et al.
Objective: To investigate the clinical and genetic characteristics of a family with Vissers-Bodmer Syndrome (VIBOS) and to review the relevant literature on VIBOS caused by CNOT1 gene variants. ...
[Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review] [0.03%]
DKC1基因新突变导致的X-连锁霍耶拉尔-赫瑞达松综合征患儿临床及基因分析并文献复习
Yuhui You,Dongqing Han,Wenjing Liu et al.
Yuhui You et al.
Objective: To explore the clinical features and genetic etiology of a child with Hoyeraal-Hreidarsson syndrome (HHS). Methods: A child ...