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Article

Inherited intragenic PBX1 deletion: Expanding the phenotype.

American journal of medical genetics. Part A - 1 Jan 2021

Fitzgerald Kristi K, Powell-Hamilton Nina, Shillingford Amanda J, Robinson Bradley, Gripp Karen W

Abstract excerpt

PBX1 encodes the pre-B cell leukemia homeobox transcription factor, a three amino acid loop extension (TALE) homeodomain transcription factor, which forms nuclear complexes with other TALE class homeodomain proteins that ultimately regulate target genes controlling organ patterning during embryogenesis. Heterozygous de novo pathogenic variants in PBX1 resulting in haploinsufficiency are associated with congenital...

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Identifiers

PMID: 33098248
DOI: 10.1002/ajmg.a.61932

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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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