Suggestions

Du même auteur

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

Archive ouverte | Estrada-Cuzcano, Alejandro | CCSD

Polydactyly is one of the most frequent inherited defects of the limbs characterized by supernumerary digits and high genetic heterogeneity. Among the many genes involved, either in isolated or syndromic forms, 8 have been implica...

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

Archive ouverte | Delvallée, Clarisse | CCSD

International audience. Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for th...

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Archive ouverte | Geoffroy, Véronique | CCSD

Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more sy...

Chargement des enrichissements...