Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis
一名患有糖尿病、智力缺陷和双行睫毛等综合征的患者,其病因是复合遗传因素。
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-022-02248-2
Le Collen, Lauriane; Delemer, Brigitte; Spodenkiewicz, Marta; Cornillet Lefebvre, Pascale; Durand, Emmanuelle; Vaillant, Emmanuel; Badreddine, Alaa; Derhourhi, Mehdi; Mouhoub, Tarik Ait; Jouret, Guillaume; Juttet, Pauline; Souchon, Pierre François; Vaxillaire, Martine; Froguel, Philippe; Bonnefond, Amélie; Doco Fenzy, Martine