Associated Papers
Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.
Huang CY et al.
Bmc Cancer, 2025
41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4
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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