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A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.

Molecular genetics & genomic medicine - 1 Feb 2020

Li Shuo, Miao Hui, Yang Hongbo, Wang Linjie, Gong Fengying, Chen Shi, Zhu Huijuan, Pan Hui

Abstract excerpt

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5-10:100,000 and no racial disparity in prevalence. The aim of this study was to present two unrelated Chinese CdLS individuals with mutations in NIPBL and to perform a comprehensive analysis of a Chinese cohort with CdLS. SUBJECTS AND METHODS: Two unrelated Chinese patients...

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Identifiers

PMID: 31872982
DOI: 10.1002/mgg3.1066
PMCID: PMC7005613

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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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