Article
Further delineation of METTL23-associated intellectual disability.
American journal of medical genetics. Part A - 1 Apr 2020
Almannai Mohammed, Obaid Osama, Faqeih Eissa, Alasmari Ali, Samman Manar M, Pinz Hailey, Braddock Stephen R, Alkuraya Fowzan S
Abstract excerpt
METTL23 belongs to a family of methyltransferase like proteins (METTL) that transfer methyl group to various substrates. Recently, pathogenic homozygous variants in METTL23 were identified in patients from three families who presented with intellectual disability (ID) and variable dysmorphic features. In this report, we present unpublished phenotypic data from the original family as well as six new subjects from...
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