• A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
• A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies
• A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency
• A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency
• Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene
• Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects
• Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2
• Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations
• Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
• Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome
• Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
• Generation of Pax1/PAX1-Specific Monoclonal Antibodies
• Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models
• Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM
• Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders
• Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome
• Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome
• PAX1 is essential for development and function of the human thymus
• PAX1 represses canonical Wnt signaling pathway and plays dual roles during endoderm differentiation
• Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome
• T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features