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Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study.

Molecular genetics & genomic medicine - 1 Dec 2022

Li Fang-Fang, Chen Wei-Jun, Yao Dan, Xu Lin, Shen Ji-Yang, Zeng Yan, Shi Zhuo, Ye Xiao-Wei, Kang Dao-Huan, Xu Bin, Shao Jie, Ji Chai

Abstract excerpt

BACKGROUND: Williams syndrome (WS) is a multisystem neurodevelopmental disorder caused by microdeletions in 7q11.23. This study aims to characterize the clinical phenotypes of Chinese children with WS to help for the early diagnosis and intervention of this disease. METHODS: 231 children diagnosed with WS were retrospectively recruited to the study. Clinical data were analyzed to obtain the incidence of different...

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Identifiers

PMID: 36168091
DOI: 10.1002/mgg3.2069
PMCID: PMC9747549

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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