Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delay
Year: 2025
Type: article
Language: en
Topic: Genomic variations and chromosomal abnormalities
Authors and affiliations:
raw_author_name: Jiangfeng Qin
raw_affiliation_strings: Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545000, Guangxi, China
Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternityand Child Healthcare Hospital, Liuzhou, 545000, Guangxi, China
raw_author_name: Yanfei Zeng
raw_affiliation_strings: Liuzhou Municipal Liutie Central Hospital, Liuzhou, 545007, Guangxi, China
raw_author_name: Songqiang Qin
raw_affiliation_strings: Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545000, Guangxi, China
Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternityand Child Healthcare Hospital, Liuzhou, 545000, Guangxi, China
raw_author_name: Wendan Wang
raw_affiliation_strings: Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545000, Guangxi, China
Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternityand Child Healthcare Hospital, Liuzhou, 545000, Guangxi, China
raw_author_name: Jun Huang
raw_affiliation_strings: Liuzhou Maternityand Child Healthcare Hospital, Liuzhou, 545000, Guangxi, China
raw_author_name: Xiaobao Wei
raw_affiliation_strings: Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545000, Guangxi, China
Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545000, Guangxi, China. 13978083524@163.com
Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternityand Child Healthcare Hospital, Liuzhou, 545000, Guangxi, China
Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternityand Child Healthcare Hospital, Liuzhou, 545000, Guangxi, China. 13978083524@163.com
raw_author_name: Rongni Chang
raw_affiliation_strings: Liuzhou Maternityand Child Healthcare Hospital, Liuzhou, 545000, Guangxi, China
raw_author_name: Xiudan Zheng
raw_affiliation_strings: Liuzhou Maternityand Child Healthcare Hospital, Liuzhou, 545000, Guangxi, China
raw_author_name: Yuanxiu Li
raw_affiliation_strings: Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545000, Guangxi, China
Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternityand Child Healthcare Hospital, Liuzhou, 545000, Guangxi, China
raw_author_name: Dejian Yuan
raw_affiliation_strings: Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545000, Guangxi, China. yuandejian@163.com
Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternityand Child Healthcare Hospital, Liuzhou, 545000, Guangxi, China. yuandejian@163.com
Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545000, Guangxi, China
raw_author_name: Xiaoni Wei
raw_affiliation_strings: Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545000, Guangxi, China
Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, 545000, Guangxi, China. 13978083524@163.com
Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternityand Child Healthcare Hospital, Liuzhou, 545000, Guangxi, China
Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternityand Child Healthcare Hospital, Liuzhou, 545000, Guangxi, China. 13978083524@163.com