[Variation of COL7A1 gene in dystrophic epidermolysis bullosa pruriginosa] [0.03%]
COL7A1基因变异与瘙痒性大疱性表皮松解症中的营养不良型大疱性表皮松解症的关系研究
Yi Shao,Jianbo Wang,Shasha Zhang et al.
Yi Shao et al.
Objective: To perform gene mutation analysis in a Chinese pedigree with dystrophic epidermolysis bullosa pruriginosa (DEB-Pr), and explore phetotype, genotype, and genotypes-phenotypes relationship of DEB-Pr. ...
[Clinical genetic analysis of an infant with 1q21.3-qter duplication and Xpter-p11 deletion caused by maternal balanced chromosomal translocation] [0.03%]
母亲平衡易位致子代发生1q21.3-qter片段重复及Xpter-p11片段缺失的临床表型和遗传学分析
Lin Lin,Chen Zhao,Yanchun Lv et al.
Lin Lin et al.
Objective: To investigate the clinical phenotype and genetic diagnosis of an infant featuring multiple hair and hyperbilirubinemia. Methods: ...
[Enlarged multicystic dysplastic kidneys with oligohydramnios during infancy caused by NPHP3 gene mutation] [0.03%]
婴儿期因NPHP3基因突变致双侧多囊性肾发育不良伴羊水过少症
Youwei Bao,Xiaoli Pan,Shuqing Pan et al.
Youwei Bao et al.
Objective: To explore the clinical features and genomic abnorm ality of a fetus enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation. ...
[Characterization of the novel HLA-A*24:191 allele and analysis of its MHC molecular modeling structure] [0.03%]
[新型HLA-A*24:191等位基因特征及其MHC分子模体结构分析]
Xiangmin Nie,Chuanfu Zhu,Haifeng Zhu et al.
Xiangmin Nie et al.
Objective: To characterize a novel HLA allele, A*24:191, its DNA sequence, MHC modeling structure, and the possible influence of the amino-acid residue variations on the molecule. ...
[Association of molecular genetic polymorphism of KIR-HLA systems with acute leukemia in Southern Chinese Han] [0.03%]
南方汉族急性白血病患者KIR-HLA基因多态性分布及其关联研究
Jianxin Zhen,Zhichao Yang,Zhihui Deng
Jianxin Zhen
Objective: To investigate the association of molecular genetic polymorphism of KIR-HLA systems with acute lymphoblastic leukemia (ALL) and acute myelocytic leukemia (AML) in southern Chinese Han. ...
[Analysis of phenotype and FH gene variation in a pedigree affected with hereditary leiomyomatosis and renal cell carcinoma syndrome] [0.03%]
FH基因变异与遗传性平滑肌瘤病肾细胞癌家系临床特点分析
Yilin Guo,Lu Wang,Zhen Xu et al.
Yilin Guo et al.
Objective: To analyze clinical phenotype and genetic variants in a Chinese pedigree of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. ...
[Clinical and genetic analysis of two rare male patients with Rett syndrome] [0.03%]
两个罕见Rett综合征男患者的临床和遗传分析
Xuan Zheng,Lei Liu,Yanhong Wang et al.
Xuan Zheng et al.
Objective: To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome. Methods: Collection of clinical d...
[De novo variant of CSNK2B causes Poirier-Bienvenu neurodevelopmental syndrome: two case report] [0.03%]
[新的CSNK2B变异导致Poirier-Bienvenu神经发育综合征的两例报告]
Jia Zhang,Yang Li,Huan Luo et al.
Jia Zhang et al.
Objective: To analyze the clinical characteristics and CSNK2B gene variant of 2 children with Poirier-Bienvenu neurodevelopmental syndrome, and to identify the possible pathogenic causes and provide evidence for clinical ...
[Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene] [0.03%]
ANKRD11基因变异致KBG综合征合并癫痫3例分析
Chao Liu,Xianhui Ren,Luojun Wang et al.
Chao Liu et al.
Objective: To summarize the clinical phenotype and genotypic characteristics of 3 patients with KBG syndrome and epileptic seizure. Methods: ...
Zhouxian Bai,Xiangdong Kong
Zhouxian Bai
Objective: To analyze the clinical manifestations and causative gene variants of the choroideremia patients, and to help the patients bedifferential diagnosed by whole exome sequencing and provide theoretical basis for th...