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

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Authors: 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

Journal title: Orphanet Journal of Rare Diseases

Journal publisher: BioMed Central

Published year: 2022

DOI identifier: 10.1186/s13023-022-02248-2

ISSN: 1750-1172