Article
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.
American journal of medical genetics. Part A - 1 May 2022
Tharreau Mylène, Garde Aurore, Marlin Sandrine, Morel Godelieve, Ernest Sylvain, Nambot Sophie, Duffourd Yannis, Ternoy Ninon, Duvillard Christian, Banka Siddharth, Philippe Christophe, Thauvin-Robinet Christel, Mau-Them Frederic Tran, Faivre Laurence
Abstract excerpt
Loss-of-function variants in KMT2D are responsible for Kabuki syndrome type 1 (KS1). In the last 5 years, missense variants in exon 38 or 39 in KMT2D have been found in patients exhibiting a new phenotype with multiple malformations and absence of intellectual disability, distinct from KS1. To date, only 16 cases have been reported with classic features of hearing loss, abnormality of the ear, lacrimal duct...
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