Clinical Genetics of Prolidase Deficiency: An Updated Review

by Marta Spodenkiewicz, Michel Spodenkiewicz, Maureen Cleary, Marie Massier, Giorgos Fitsialos, Vincent Cottin, Guillaume Jouret, Céline Poirsier, Martine Doco-Fenzy, Anne-Sophie Lèbre
Published 2020-05-01

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

by Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre, Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond, Martine Doco Fenzy
Published 2022-02-01