The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
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Author / Creator
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 and Van Esch, Hilde
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
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 objec...
Alternative Titles
Full title
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10133310
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10133310
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-023-01307-x
