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[Genetic analysis of a child with Dias-Logan syndrome due to variant of BCL11A gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2024

Li Linfei, Luo Shuying, Zhang Yaodong, Shang Qing, Zhang Wancun, Liu Lei, Zhang Xiaoman, Mei Shiyue

Abstract excerpt

OBJECTIVE: To analyze the clinical and genetic characteristics of a child featuring Dias-Logan syndrome. METHODS: A child with speech disorders and delayed psychomotor development from childhood who was admitted to the Rehabilitation Medicine Department of Children's Hospital Affiliated to Zhengzhou University in July 2022 was selected as the research subject. Clinical data of the child was collected. Genomic DNA...

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Child, Preschool
Developmental Disabilities
Exome Sequencing
Genetic Testing
Microcephaly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nuclear Proteins

Repressor Proteins

Speech Disorders

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PMID: 39217489
DOI: 10.3760/cma.j.cn511374-20221209-00855

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