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 individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.
Riedhammer KM et al.
European Journal of Human Genetics : Ejhg, 2023
Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia.
Petzold F et al.
Clinical Kidney Journal, 2022
Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing.
Stippel M et al.
Frontiers in Genetics, 2021
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
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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