Associated Papers
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
PAX1 is essential for development and function of the human thymus.
Yamazaki Y et al.
Science Immunology, 2020
A novel case of homozygous PAX1 mutation associated with hypoparathyroidism.
Hamel BL et al.
Therapeutic Advances in Rare Disease, 0
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