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Article

[Analysis of NIPBL gene mutation in a patient 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

Mei Jin, Wang Min, Wang Xiaohua, Yao Juan

Abstract excerpt

OBJECTIVE: To analyze the genotype-phenotype correlation in a case with Cornelia de Lange syndrome (CdLS). METHODS: Genetic testing was carried out for a baby girl born by Cesarean section. The patient had clinical features including peculiar face, long bushy eyebrows, hypertelorism, wide sagittal suture, low-set ears, retrognathia, polydactyly and polysyndactyly of first toes, weak cry, poor suck and slow...

Topics

Cell Cycle Proteins
Cesarean Section
De Lange Syndrome
Female
Frameshift Mutation
Genotype
Humans
Infant, Newborn
Phenotype
Pregnancy
Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Deletion

Source

Identifiers

PMID: 30098256
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.022

Genes

NIPBL
RAD21
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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