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Article

Cardiovascular Defects as the Initial Presentation in Two Prenatal Cases of De Novo Heterozygous PBX1 Variants.

American journal of medical genetics. Part A - 1 Aug 2026

Lan Zhu, Xu Bocheng, Wang Hao, Liu Shanling, Wang He, Zhang Zhu

Abstract excerpt

PBX1-associated congenital anomalies of the kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED) is a highly pleiotropic, autosomal dominant developmental disorder. The disease spectrum is broad, and only a limited number of prenatal cases have been reported to date. We report two well-documented prenatal cases of CAKUTHED presenting with cardiovascular...

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Source

Identifiers

PMID: 41930632
DOI: 10.1002/ajmg.a.70148

Genes

PBX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Cardiovascular Defects as the Initial Presentation in Two Prenatal Cases of De Novo Heterozygous PBX1 Variants.PMID 41930632Read ↗

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