[Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene] [0.03%]
B3GALT6基因突变引起中国埃勒斯-丹洛斯型软骨发育不全家系的临床及基因分析
Shaocong Lan,Chengyan Li,Binglong Huang et al.
Shaocong Lan et al.
Objective: To explore the clinical phenotype and genetic etiology of a child with Ehlers-Danlos syndrome, spondylodysplastic type 2 (EDSSPD2). Methods: ...
[Analysis of genetic variant and phenotype of a child with Chanarin-Dorfman syndrome] [0.03%]
[一例Chanarin-Dorfman综合征患者的基因变异及表型分析]
Mengyao Zhang,Ke Zheng,Kangjie Shen et al.
Mengyao Zhang et al.
Objective: To explore the genetic basis of a child with Chanarin-Dorfman syndrome (CDS) manifesting as ichthyosis. Methods: A child who...
[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene] [0.03%]
PBX1基因突变导致的CAKUTHE综合征患儿临床表型及遗传分析
Jiao Tang,Chuan Zhang,Ruiqiong Yang et al.
Jiao Tang et al.
OBJECTIVE：To explore the clinical characteristics and genetic etiology of a child with CAKUTHED syndrome. Methods: A child who was admitted to the neonatal...
[Clinical phenotype and genetic analysis of a child with Acid-labile subunit deficiency due to variant of IGFALS gene] [0.03%]
IGFALS基因变异所致生长介素亚基酸不稳定性蛋白缺乏症患儿的临床表型和遗传分析
Yanli Wang,Zhijin Lu,Shuangxi Cheng et al.
Yanli Wang et al.
Objective: To explore the clinical phenotypes and genetic characteristics of a child with Acid-labile subunit deficiency (ALS). Methods: ...
[Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene] [0.03%]
PSMD12基因变异所致STISS综合征患儿的临床特征及遗传分析
Delong Peng,Chunxiao Han,LuLu Yan et al.
Delong Peng et al.
Objective: To explore the clinical characteristics and genetic etiology of STISS syndrome (an autosomal dominant disorder characterized by ubiquitin-proteasome system dysfunction) in a child. ...
[Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant] [0.03%]
SCAF4新发变异导致Fliedner-Zweier综合征1例临床及遗传特征分析
Lulu Yan,Changshui Chen,Yuxin Zhang et al.
Lulu Yan et al.
Objective: To explore the clinical characteristics and genetic etiology of a patient with Fliedner-Zweier syndrome (FZS). Methods: A pr...
[Genetic analysis of a Chinese pedigree affected with Isolated growth hormone deficiency due to variant of CHRHR gene] [0.03%]
中国生长激素缺乏症家系的基因分析报告1例
Hui Yin,Bingyan Cao,Ziqin Liu et al.
Hui Yin et al.
Objective: To analyze the clinical and genetic characteristics of a Chinese pedigree affected with congenital Isolated growth hormone deficiency (IGHD). M...
[Clinical features and genetic analysis of a child with Progressive familial intrahepatic cholestasis type 8 due to compound heterozygous variants of KIF12 gene] [0.03%]
KIF12复合杂合变异导致的第八型进行性家族遗传性肝胆病患儿的临床及基因分析
Dayan Sun,Shixuan Zhang,Junmin Liao et al.
Dayan Sun et al.
Objective: To explore the clinical phenotype and genetic characteristics of a child with Progressive familial intrahepatic cholestasis type 8 (PFIC8). METHODS A child with PFIC diagnosed at Beijing Children's Hospital Aff...
[Application of SNP linkage-based PGT-M to block the transmission of EFNB1 deletion in a Chinese family affected with Cranio-facial-nasal syndrome] [0.03%]
基于SNP连锁的胚胎植入前遗传学检测阻断中国CFNS家系EFNB1基因缺失传递的研究
Boning Shen,Yurun Tian,Li Wan et al.
Boning Shen et al.
Objective: To block the transmission of Cranio-facial-nasal syndrome (CFNS) caused by a large deletion of the EFNB1 gene through preimplantation genetic testing for monogenic disorders (PGT-M). ...
[Molecular pathogenesis of a novel p.Cys467Tyr missense variant underlying Hereditary factor Ⅻ deficiency] [0.03%]
[p.Cys467Tyr错义突变导致的遗传性FXII缺乏症的分子病理机制]
Langyi Qin,Yanhui Jin,Yaosheng Xie et al.
Langyi Qin et al.
Objective: To investigate the molecular mechanism for a family with Hereditary coagulation factor Ⅻ (FⅫ) deficiency. Methods: The pro...