Ontology highlight
ABSTRACT:
SUBMITTER: Lepri FR
PROVIDER: S-EPMC5796032 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Lepri Francesca Romana FR Cocciadiferro Dario D Augello Bartolomeo B Alfieri Paolo P Pes Valentina V Vancini Alessandra A Caciolo Cristina C Squeo Gabriella Maria GM Malerba Natascia N Adipietro Iolanda I Novelli Antonio A Sotgiu Stefano S Gherardi Renzo R Digilio Maria Cristina MC Dallapiccola Bruno B Merla Giuseppe G
International journal of molecular sciences 20171228 1
Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in <i>KMT2D/MLL2</i> and <i>KDM6A/UTX</i>, two interacting chromatin modifier responsible respectively for 56-75% and 5-8% of the cases. To date, three KS patients with mosaic <i>KMT2D</i> deletions in blood lymphocytes have been described. We report on three additional subjects displaying <i>KMT2D</i> gene mosaics including one in which a single nucleot ...[more]