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Article

[Cornelia de Lange syndrome: report of a case and the review of literature on 17 cases].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Aug 2012

Hei Ming-yan, Chen Jia, Wu Ling-qian, Yu Bo, Tan Yan-juan, Zhao Ling-ling

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics of Cornelia de Lange Syndrome (CdLS) and to review the latest clinical research reports. METHOD: Clinical and laboratory data of one case of neonatal CdLS are reported, and literature on 17 cases of CdLS in China and the international reports of the clinical and molecular biological research on this disease were reviewed. RESULT: (1) The patient was an infant...

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Source

Identifiers

PMID: 23158739

Genes

NIPBL
SMC3

Provenance

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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