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[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2025

Tang Jiao, Zhang Chuan, Yang Ruiqiong, Tian Xinyuan, Zhou Bingbo, Wang Yupei, Hui Ling

Abstract excerpt

OBJECTIVE：To explore the clinical characteristics and genetic etiology of a child with CAKUTHED syndrome. METHODS: A child who was admitted to the neonatal department of Gansu Provincial Maternal and Child Health Care Hospital due to "neonatal asphyxia" in May 2021 was selected as the study subject. Genomic DNA was extracted from peripheral venous blood samples from the child and his parents, and whole exome...

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Abnormalities, Multiple
Base Sequence
PBX1 gene
Infant, Newborn
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41811045
DOI: 10.3760/cma.j.cn511374-20241015-00535

Genes

PBX1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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