Associated Papers
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
Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death.
Huang N et al.
Birth Defects Research, 2024
Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia.
Petzold F et al.
Clinical Kidney Journal, 2022
Select a paper to view details