Ontology highlight
ABSTRACT:
SUBMITTER: Crequer A
PROVIDER: S-EPMC3428299 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Crequer Amandine A Picard Capucine C Patin Etienne E D'Amico Aurelia A Abhyankar Avinash A Munzer Martine M Debré Marianne M Zhang Shen-Ying SY de Saint-Basile Geneviève G Fischer Alain A Abel Laurent L Orth Gérard G Casanova Jean-Laurent JL Jouanguy Emmanuelle E
PloS one 20120827 8
Epidermodysplasia verruciformis (EV) is characterized by persistent cutaneous lesions caused by a specific group of related human papillomavirus genotypes (EV-HPVs) in otherwise healthy individuals. Autosomal recessive (AR) EVER1 and EVER2 deficiencies account for two thirds of known cases of EV. AR RHOH deficiency has recently been described in two siblings with EV-HPV infections as well as other infectious and tumoral manifestations. We report here the whole-exome based discovery of AR MST1 de ...[more]