Disease: Otofaciocervical syndrome
- 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