Article
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
American journal of medical genetics. Part A - 1 May 2020
Windheuser Isabelle C, Becker Jessica, Cremer Kirsten, Hundertmark Hela, Yates Laura M, Mangold Elisabeth, Peters Sophia, Degenhardt Franziska, Ludwig Kerstin U, Zink Alexander M, Lessel Davor, Bierhals Tatjana, Herget Theresia, Johannsen Jessika, Denecke Jonas, Wohlleber Eva, Strom Tim M, Wieczorek Dagmar, Bertoli Marta, Colombo Roberto, Hempel Maja, Engels Hartmut
Abstract excerpt
Both point mutations and deletions of the MYT1L gene as well as microdeletions of chromosome band 2p25.3 including MYT1L are associated with intellectual disability, obesity, and behavioral problems. Thus, MYT1L is assumed to be the-at least mainly-causative gene in the 2p25.3 deletion syndrome. Here, we present comprehensive descriptions of nine novel individuals bearing MYT1L mutations; most of them single...
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