A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report
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Kabuki syndrome (KS) is an autosomal dominant genetic disorder in which most cases are caused by de novo mutations. KS type 1 is caused by mutations in KMT2D (OMIM: #147920) and is more common. KS type 2 is caused by mutations in KDM6A (OMIM: #300867). Both ge... ...
