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Article

[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2018

Miao Yequan, Zhu Yueyue, Zhang Qigang, Guo Haowei, Zhao Yuxiang, Cheng Longfei, Han Liangrong, Ning Ying, Pan Qiong

Abstract excerpt

OBJECTIVE: To detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS). METHODS: Peripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing. RESULTS: The neonates were found to respectively carry...

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Source

Identifiers

PMID: 30098241
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.007

Genes

NIPBL
HDAC8
RAD21
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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