Associated Papers
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Gomez VL et al.
Current Issues in Molecular Biology, 2026
A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.
Elbagoury NM et al.
Journal of Molecular Neuroscience : Mn, 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
An overview of PAX1: Expression, function and regulation in development and diseases.
Wu W et al.
Frontiers in Cell and Developmental Biology, 2022
PAX1 is essential for development and function of the human thymus.
Yamazaki Y et al.
Science Immunology, 2020
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.
Patil SJ et al.
American Journal of Medical Genetics. Part A, 2018
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