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Article

A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review.

Frontiers in endocrinology - 1 Jan 2021

Li Ran, Tian Bowen, Liang Hanting, Chen Meiping, Yang Hongbo, Wang Linjie, Pan Hui, Zhu Huijuan

Abstract excerpt

Purpose: Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder, and cases caused by variants in SMC3 are infrequent. This article describes a case of CdLS related to a pathogenic variant in SMC3 and performs a literature review. Methods: We collected clinical data and biological samples from a 12-year-old boy with "short stature for 11 years". Gene variants in the proband were detected by...

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Identifiers

PMID: 34659104
DOI: 10.3389/fendo.2021.604500
PMCID: PMC8515141

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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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