Article
[Genetic analysis of a Chinese pedigree affected with Branchio-oculo-facial syndrome and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2024
Li Ke, Sun Hengqing, Guo Yu, Sun Gege, Duan Huikun, Kong Xiangdong, Liu Ning
Abstract excerpt
OBJECTIVE: To explore the genetic etiology of a Chinese pedigree affected with Branchio-oculo-facial syndrome (BOFS) and summarize the prenatal phenotype of BOFS patients. METHODS: A pedigree with BOFS which had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University in December 2021 was selected as the study subject. Clinical data of the pedigree was...
Topics
- Adult
- Female
- Humans
- Male
- Pregnancy
- Branchio-Oto-Renal Syndrome
- China
- East Asian People
- Exome Sequencing
- Genetic Testing
- Mutation
- Pedigree
- Phenotype
- Prenatal Diagnosis
- Transcription Factor AP-2