[Genetic analysis of a Chinese patient with congenital disorders of glycosylation-If] [0.03%]
中国CDG-If患者基因分析
Hua Zhang,Fuqing Zhang,Min Liu et al.
Hua Zhang et al.
Objective: To explore the genetic basis for a Chinese patient with congenital disorders of glycosylation-If (CDG-If). Methods: Whole ex...
[Analysis of SSR4 gene variant in a child with congenital glycosylation type 1y in conjunct with congenital dysplasia of external auditory canal] [0.03%]
SSR4基因变异在一名先天性糖基化障碍1型伴先天性外耳道发育不良患儿中的分析
Ruohao Wu,Wenting Tang,Kunyin Qiu et al.
Ruohao Wu et al.
Objective: To explore the genetic basis for a child with congenital disorder of glycosylation type 1y (CDG-1y) in conjunct with congenital dysplasia of external auditory canal. ...
[Analysis of clinical features and FKTN gene variant in a child with congenital muscular dystrophy] [0.03%]
先天性肌营养不良患儿临床特征分析及FKTN基因变异检测
Yuxin Zhang,Yanjie Xia,Qinghua Wu et al.
Yuxin Zhang et al.
Objective: To analyze the clinical features and genetic basis for a child featuring elevated creatine kinase (CK). Methods: Next-genera...
[Clinical and genetic analysis of a patient with isolated 17,20 lyase deficiency presenting with pubertal gynecomastia] [0.03%]
孤立性17,20-lyase缺陷症伴青春期男性乳房发育1例的临床及遗传分析
Hui Yin,Xiaobo Chen,Ziqin Liu et al.
Hui Yin et al.
Objective: To explore the clinical and genetic basis for a patient with isolated 17,20 lyase deficiency presenting with pubertal gynecomastia. Methods: ...
[Analysis of GCH1 gene variant in a consanguineous Chinese pedigree affected with tetrahydrobiopterin deficiency] [0.03%]
遗传性四氢生物pterin缺乏症家系GCH1基因变异分析
Xiaole Li,Dengna Zhu,Suna Liu et al.
Xiaole Li et al.
Objective: To explore the genetic basis for a child featuring tetrahydrobiopterin deficiency and global developmental delay. Methods: C...
[Analysis of genetic variant in a Chinese pedigree with hereditary factor VIII deficiency] [0.03%]
中国血友病甲家系遗传突变分析
Haixiao Xie,Lihong Yang,Huinan Xia et al.
Haixiao Xie et al.
Objective: To explore the genetic basis for a patient with factor VIII deficiency. Methods: All exons of the F13A1 and F13B genes were ...
[Analysis of phenotype and genetic variant in a family with Shprintzen-Goldberg syndrome] [0.03%]
一例施普林岑-戈德伯格综合征家系的临床表型和基因型分析
Jiamin Shi,Junhui Sun,Yuan Chen et al.
Jiamin Shi et al.
Objective: To explore the genetic basis for a proband with Shprintzen-Goldberg syndrome (SGS). Methods: Whole exome sequencing was carr...
[Genetic and prenatal diagnosis of a Chinese pedigree with autosomal recessive Wolfram syndrome 1 due to compound heterozygous variants of WFS1 gene] [0.03%]
WFS1基因复合杂合变异所致遗传性胎儿胰岛细胞瘤综合征1型一中国家系的基因及产前诊断
Hongfei Kang,Kai Yang,Xiangdong Kong
Hongfei Kang
Objective: To explore the genetic pathogenicity for a Chinese pedigree affected with severe syndromic deafness. Methods: High-throughpu...
[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing] [0.03%]
中国亚胺酸血症家系的下一代测序 differential 诊断
Ganye Zhao,Chen Chen,Xuechao Zhao et al.
Ganye Zhao et al.
Objective: To explore the genetic etiology of a child with suspected propionic acidemia. Methods: Genomic DNA was extracted from periph...
Chuan Zhang,Xuan Feng,Liguo Yao et al.
Chuan Zhang et al.
Objective: To carry out genetic analysis for 3 children from two Chinese families affected with maple syrup urine disease (MSUD). Methods: ...