Associated Papers
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.
Iwai M et al.
European Journal of Human Genetics : Ejhg, 2026
Functional Characterization of a Novel PBX1 De Novo Missense Variant Identified in a Pediatric Patient with CAKUT.
Scolari C et al.
Genes, 2025
41300798 (PubMed )
Supplement: genes-16-01346-s001.zip › genes-3940097-supplementary.pdf
Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing.
Mary L et al.
Genes, 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
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
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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