[Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency] [0.03%]
MVK基因变异在由甲羟戊酸激酶缺乏所致高IgD综合征患儿中的分析
Junchao Wang,Xingjia Wei,Zhenli Tao
Junchao Wang
Objective: To analyze the clinical and genetic features of a patient with mevalonate kinase deficiency (MKD). Methods: Whole exome sequ...
[Clinical characteristics and genetic analysis of a neonate with Smith-Magenis syndrome] [0.03%]
[史密斯-蒙凯尼综合征患儿的临床特征及遗传学分析]
Heng Shu,Tongsheng Ye,Guanghui Liu et al.
Heng Shu et al.
Objective: To explore the clinical features and genetic etiology for a neonate with Smith-Magenis syndrome (SMS). Methods: Copy number ...
[Diagnosis and counseling for a Chinese pedigree affected with autosomal recessive primary microcephaly 5 due to variants of ASPM gene] [0.03%]
ASPM基因变异的自闭症隐性原发性小头畸形5例家系的诊断及遗传咨询
Yan Zhang,Lina Zeng,Li Lin
Yan Zhang
Objective: To detect potential mutation of the ASPM gene in a Chinese pedigree affected with autosomal recessive primary microcephaly 5 (MCPH5). Methods: ...
[Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia] [0.03%]
[SALL1基因变异分析一例无肛门闭锁的Townes-Brocks综合征患者]
Haixia Wei,Liangzhong Sun,Min Li et al.
Haixia Wei et al.
Objective: To explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia. Methods: ...
[Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene] [0.03%]
AHDC1基因变异所致Xia-Gibbs综合征病例分析
Lijuan Fan,Yang Li,Huan Luo et al.
Lijuan Fan et al.
Objective: To analyze the clinical and genetic characteristics of a child featuring Xia-Gibbs syndrome. Methods: Whole exome sequencing...
[Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient] [0.03%]
SCN9A复合杂合变异导致的一例先天性无痛症患者报告
Ying Bai,Yue Sun,Jing Wu et al.
Ying Bai et al.
Objective: To explore the genetic basis for a child featuring congenital insensitivity to pain (CIP). Methods: Targeted capture and nex...
[Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene] [0.03%]
[CHD7基因新发变异导致的两例CHARGE综合征的临床和遗传特征分析]
Yan Dong,Xiaoyi Shi,Kaixian Du et al.
Yan Dong et al.
Objective: To analyze the clinical characteristics and genetic basis of two children patients with CHARGE syndrome. Methods: The clinic...
[Genetic analysis of a Chinese pedigree affected with Becker muscular dystrophy with myalgia as the main feature] [0.03%]
中国Becker型肌营养不良家系的临床与基因分析
Dan Xie,Hongyan Huang,Yanming Xu
Dan Xie
Objective: To explore the genetic basis of a Chinese pedigree affected with Becker muscular dystrophy (BMD) with myalgia as the main feature. Methods: ...
[Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters] [0.03%]
中国视网膜劈裂症家系中RS1基因变异分析
Ping Luo,Qiuyan Liu,Xuesha Xing et al.
Ping Luo et al.
Objective: To explore the genetic basis for a Chinese pedigree affected with X-linked retinoschisis. Methods: Clinical data of the pedi...
[Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene] [0.03%]
EYA1基因无义突变所致鳃-耳-肾综合征中国家系的基因分析
Rui Han,Xiaoran Liu,Erdengqieqieke Ye et al.
Rui Han et al.
Objective: To analyze the clinical phenotype and genetic basis for a Chinese pedigree suspected for branchiootic syndrome (BOS). Methods: ...