Associated Papers
Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.
Vlachavas EI et al.
Molecular Oncology, 2025
39876058 (PubMed )
Supplement: MOL2-19-1751-s006.xlsx › Sheet_1
A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.
Elbagoury NM et al.
Journal of Molecular Neuroscience : Mn, 2023
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Yakici N et al.
Clinical Immunology (orlando, Fla.), 2023
Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2.
Sherlaw-Sturrock C et al.
European Journal of Medical Genetics, 2022
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