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[Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2023

Wang Li, Li Jingjing, Xu Jinghan, Xu Yanlei, Wang Junbo, Feng Yin, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of three children with KBG syndrome. METHODS: Clinical data of the three children from two families who have presented at the First Affiliated Hospital of Zhengzhou University between October 2019 and September 2020 and their family members were collected. Trio-whole exome sequencing (trio-WES) and Sanger sequencing were carried out. RESULTS: All...

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PMID: 36584991
DOI: 10.3760/cma.j.cn511374-20211117-00915

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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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