Associated Papers
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.
Iwai M et al.
European Journal of Human Genetics : Ejhg, 2026
41162587 (PubMed )
Supplement: 41431_2025_1973_MOESM1_ESM.pdf
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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
The TALE homeodomain of PBX1 is involved in human primary testis-determination.
Eozenou C et al.
Human Mutation, 2019
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