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[Identification of a novel missense NIPBL variant in a juvenile with severe type of Cornelia de Lange syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2020

Tang Wenting, Wu Ruohao, Meng Zhe, Li Xiaojuan, Ouyang Nengtai, Liang Liyang

Abstract excerpt

OBJECTIVE: To detect pathogenic variant in a juvenile with severe type Cornelia de Lange syndrome (CdLS). METHODS: A 12-year-old female presented with comprehensive developmental retardation and deformity of lower limbs. Genomic DNA was extracted from peripheral blood sample of the patient. Whole exome sequencing was performed to identify pathogenic variants. Putative variant was verified by Sanger sequencing....

Topics

Cell Cycle Proteins
Child
De Lange Syndrome
Developmental Disabilities
Female
Humans
Mutation, Missense
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32335880
DOI: 10.3760/cma.j.issn.1003-9406.2020.05.010

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