Article
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
European journal of human genetics : EJHG - 1 Apr 2023
Aerden Mio, Denommé-Pichon Anne-Sophie, Bonneau Dominique, Bruel Ange-Line, Delanne Julian, Gérard Bénédicte, Mazel Benoît, Philippe Christophe, Pinson Lucile, Prouteau Clément, Putoux Audrey, Tran Mau-Them Frédéric, Viora-Dupont Éléonore, Vitobello Antonio, Ziegler Alban, Piton Amélie, Isidor Bertrand, Francannet Christine, Maillard Pierre-Yves, Julia Sophie, Philippe Anais, Schaefer Elise, Koene Saskia, Ruivenkamp Claudia, Hoffer Mariette, Legius Eric, Theunis Miel, Keren Boris, Buratti Julien, Charles Perrine, Courtin Thomas, Misra-Isrie Mala, van Haelst Mieke, Waisfisz Quinten, Wieczorek Dagmar, Schmetz Ariane, Herget Theresia, Kortüm Fanny, Lisfeld Jasmin, Debray François-Guillaume, Bramswig Nuria C, Atallah Isis, Fodstad Heidi, Jouret Guillaume, Almoguera Berta, Tahsin-Swafiri Saoud, Santos-Simarro Fernando, Palomares-Bralo Maria, López-González Vanesa, Kibaek Maria, Tørring Pernille M, Renieri Alessandra, Bruno Lucia Pia, Õunap Katrin, Wojcik Monica, Hsieh Tzung-Chien, Krawitz Peter, Van Esch Hilde
Abstract excerpt
Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases have been reported to date. We aimed to further delineate the TRIP12-associated phenotype and objectify characteristic facial traits through GestaltMatcher image...
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