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Article

[Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2022

Ma Jian, Ma Haixia, Zhang Kaihui, Lyu Yuqiang, Gao Min, Wang Dong, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder. METHODS: Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical...

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Identifiers

PMID: 35446982
DOI: 10.3760/cma.j.cn511374-20201113-00797

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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