A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.

This report provides evidence that bi-allelic null PAX1 mutations may lead to a multi-system autosomal recessive disorders, where severe combined immunodeficiency might represent the main feature.
PMID: 28657137 [PubMed - as supplied by publisher]

Source: Clinical Genetics - June 28, 2017 Category: Genetics & Stem Cells Authors: Paganini I, Sestini R, Capone GL, Putignano AL, Contini E, Giotti I, Gensini F, Marozza A, Barilaro A, Porfirio B, Papi L Tags: Clin Genet Source Type: research