Benign hereditary chorea: From benign to serious

Archive ouverte | Lamiral, Anaide | CCSD

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features

Archive ouverte | El Chehadeh, Salima | CCSD

International audience. Congenital ichthyosis is a condition that includes several distinct subtypes with significant genetic heterogeneity. Defects in the ERCC2 [xeroderma pigmentosum (XP) complementation group D] ...

A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum

Archive ouverte | Durand, Benjamin | CCSD