[Clinical efficacy analysis of seven pediatric patients with Acute myeloid leukemia and the t(16;21)(p11;q22) FUS::ERG fusion gene] [0.03%]
伴有t(16;21)(p11;q22)FUS-RERG融合基因的7例儿童急性髓系白血病临床疗效分析
Lihuan Shi,Shan Huang,Xing Xie et al.
Lihuan Shi et al.
Objective: To analyze the clinical characteristics, treatment, and prognosis of seven pediatric patients with Acute myeloid leukemia (AML) positive for the t(16;21)(p11;q22) FUS::ERG fusion gene. ...
[Guidelines for the diagnosis, treatment, and management of Citrin deficiency (2026 Edition)] [0.03%]
《Citrin缺乏症的诊断、治疗和管理指南（2026年版）》
Division Of Biochemistry And Metabolism Medical Genetics Branch Chinese Medical Association,Division Of Genetics And Metabolism Child Diseases And Health Care Branch Chinese Association For Maternal And Child Health Care,Xinwen Huang
Division Of Biochemistry And Metabolism Medical Genetics Branch Chinese Medical Association
Citrin deficiency is an inherited metabolic disease that primarily affects the liver, growth and development, and can even lead to death. To deepen the understanding of this disease and improve the diagnostic and therapeutic levels as well ...
[Exploration of the mechanism by which ABOcisAB.01 and different genetic combinations may drive phenotypic plasticity] [0.03%]
[对ABOcisAB.01和不同基因组合可能驱动表型可塑性的机制的探索]
Li&#x;na Ni,Gaoyan Lyu,Yingbo Li et al.
Li&#x;na Ni et al.
Objective: To analyze the ABO serological and molecular characteristics of a Chinese pedigree carrying an ABO*cisAB.01 allele for the blood subgroup. Meth...
Hai Wang,Zitong Xu,Haojie Pan et al.
Hai Wang et al.
Objective: To investigate the clinical characteristics and genetic etiology in a fetus with 12q14 microdeletion syndrome. Methods: A fe...
[Pathological characteristics and genetic analysis of a stillborn harboring compound heterozygous nonsense variants of TH gene] [0.03%]
复合杂合终止变异TH基因致死性胎儿甲状腺素生成障碍综合征一例病理及遗传分析
Haofeng Ning,Zheng Yang,Xiaonan Wang et al.
Haofeng Ning et al.
Objective: To carry out pathological and genetic analyses on a fetus with intrauterine growth restriction and death during second trimester after induced abortion. ...
Xin Xu,Hong Xu,Hongying Li et al.
Xin Xu et al.
Objective: To explore the genetic basis for a boy affected with Cohen syndrome. Methods: A boy admitted to Children's Hospital of Nanji...
[Clinical characterization and genetic analysis of a patient with Xeroderma pigmentosum in conjunct with basal cell carcinoma and melanoma due to variants of XPC gene] [0.03%]
XPC基因复合基底细胞癌和黑色素瘤型色素性干皮病患者的临床特征及遗传分析
Yixing Chang,Xiaoning Zhang,Rui Wang et al.
Yixing Chang et al.
Objective: To explore the clinical presentation and genetic etiology of a case with Xeroderma pigmentosum in conjunct with basal cell carcinoma and melanoma. ...
[Clinical phenotype and genetic analysis of a child with Hereditary hemorrhagic telangiectasia combined with growth hormone deficiency due to variant of ENG gene] [0.03%]
ENG基因变异所致遗传性出血性毛细血管扩张症合并生长激素缺乏患儿的临床表型和基因分析
Mengxin Sun,Hong Yan,Wenjie Sun et al.
Mengxin Sun et al.
Objective: To explore the clinical features and genetic etiology in a child with Hereditary hemorrhagic telangiectasia (HHT) complicated by growth hormone deficiency. ...
[Clinical characteristics and prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene] [0.03%]
DYNC2H1基因突变所致短肋胸发育不良综合征的临床特征及产前诊断报告
Chongyang Zhao,Guoping Ren,Jingjing Bi et al.
Chongyang Zhao et al.
Objective: To explore the prenatal features and genetic etiology of a fetus with Short-rib cage dysplasia (SRTD) due to variants of DYNC2H1 gene. Methods:...
[Genetic analysis of a child with Oculo-facio-cardio-dental syndrome due to a deletional variant of BCOR gene] [0.03%]
BCOR基因缺失型变异所致眼腮心脏牙齿综合征患儿的遗传分析
Rui Tang,Yuan Yang,Yunqiang Liu
Rui Tang
Objective: To explore the genetic etiology of a Chinese boy affected with Oculo-facio-cardio-dental syndrome (OFCD). Methods: A child d...