Associated Papers
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
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
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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