Associated Papers
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.
Iwai M et al.
European Journal of Human Genetics : Ejhg, 2026
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
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
Select a paper to view details