Article
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.
European journal of human genetics : EJHG - 1 Aug 2023
Bouassida Malek, Egloff Matthieu, Levy Jonathan, Chatron Nicolas, Bernardini Laura, Le Guyader Gwenaël, Tabet Anne-Claude, Schluth-Bolard Caroline, Brancati Francesco, Giuffrida Maria Grazia, Dard Rodolphe, Clorennec Juliette, Coursimault Juliette, Vialard François, Hervé Bérénice
Abstract excerpt
Microduplications involving the MYT1L gene have mostly been described in series of patients with isolated schizophrenia. However, few reports have been published, and the phenotype has still not been well characterized. We sought to further characterize the phenotypic spectrum of this condition by describing the clinical features of patients with a pure 2p25.3 microduplication that includes all or part of MYT1L....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.