Associated Papers
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.
Iwai M et al.
European Journal of Human Genetics : Ejhg, 2026
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
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
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Heidet L et al.
Journal of the American Society of Nephrology : Jasn, 2017
Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.
Riedhammer KM et al.
Frontiers in Pediatrics, 2017
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