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Article

A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case.

Nephron - 1 Jan 2023

Nie Ling, Li Yan, Xiao Tangli, Zhang Bo, Zhao Jinghong, Hou Weiping

Abstract excerpt

Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED) is a rare autosomal dominant disorder and variants in PBX1 are involved in the etiology of this syndrome. Precise diagnosis is difficult without genetic test. We described a Chinese CAKUTHED patient, whose characteristics were collected from medical records. The potential...

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PMID: 36318887
DOI: 10.1159/000526847

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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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A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case.PMID 36318887Read ↗

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