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[Analysis of clinical characteristics and genetic variants in two pedigrees affected with Autosomal dominant intellectual developmental disorder 49].

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

Lyu Yuqiang, Zhang Yanqing, Li Ning, Zhang Kaihui, Gao Min, Ma Jian, Guo Weitong, Liu Yi, Gai Zhongtao

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic features of two Chinese pedigrees affected with Autosomal dominant intellectual developmental disorder 49 (MRD49). METHODS: Two MRD49 pedigrees which were admitted to the Children's Hospital Affiliated to Shandong University respectively on January 28, 2021 and November 10, 2022 were selected as the study subjects. Clinical data of the two pedigrees were collected...

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PMID: 39528278
DOI: 10.3760/cma.j.cn-511374-20240102-00002

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