Article
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.
Orphanet journal of rare diseases - 28 Feb 2022
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
Abstract excerpt
BACKGROUND: We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis. We used different genetic tools to identify causative pathogenic mutations and/or copy number variations. RESULTS: Although proband's, diabetes mellitus occurred during childhood, type 1 diabetes was unlikely due to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.