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

Abstract

Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies, and mild intellectual disability. Autosomal dominant cases are caused by deletions or point mutations of EYA1. A single family with an autosomal recessive form of OFCS and… (More)
DOI: 10.1111/cge.13085

Topics

Cite this paper

@article{Paganini2017ANP, title={A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.}, author={Irene Paganini and Roberta Sestini and Gabriele Lorenzo Capone and Anna Laura Putignano and Elisa Contini and Irene Giotti and Francesca Gensini and Annabella Marozza and Alessandro Barilaro and Berardino Porfirio and Laura Papi}, journal={Clinical genetics}, year={2017}, volume={92 6}, pages={664-668} }