Article
Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.
Medicine - 6 Dec 2024
Zhang Haozheng, Yuan Limei, Fan Meili, Liu Zhaotian, Yan Yuxi, Liu Qinghua, Zhang Kaihui, Li Chunmiao, Liu Deyao
Abstract excerpt
RATIONALE: Koolen-De Vries syndrome (KdVS, OMIM: 612452), also known as 17q21.31 microdeletion syndrome, is an autosomal dominant genetic disease. In the study, we analyze of clinical phenotype and gene variation of a child with Koolen-De Vries syndrome, review the literature to improve the understanding of the disease. PATIENT CONCERNS: The patient is a male, aged 1 month and 3 days. The patient has poor airway...
Topics
- Humans
- Male
- Mutation
- Cytoskeletal Proteins
- Chromosome Deletion
- Nuclear Proteins
- Chromosomes, Human, Pair 17
- Intellectual Disability
- Infant, Newborn
- Infant
- Phenotype