Associated Papers
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.
Iwai M et al.
European Journal of Human Genetics : Ejhg, 2026
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
41141495 (PubMed )
Supplement: mmc1.pdf
A rare PBX1 variant identified in adulthood: a case report.
Han AR et al.
Frontiers in Medicine, 2025
A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case.
Nie L et al.
Nephron, 2023
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.
Mary L et al.
Human Mutation, 2022
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
Ruscitti F et al.
Birth Defects Research, 2022
35751431 (PubMed )
Supplement: supplement_1.xlsx › Foglio1
Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia.
Petzold F et al.
Clinical Kidney Journal, 2022
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Alankarage D et al.
Human Molecular Genetics, 2020
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Arts P et al.
American Journal of Medical Genetics. Part A, 2020
32141698 (PubMed )
Supplement: AJMG-182-1273-s001.docx
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Slavotinek A et al.
Human Molecular Genetics, 2017
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