The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant-Reference-Cited by-同舟云学术

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Published:2023-02-07 Issue:4 Volume:31 Page:461-468
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Aerden Mio^ORCID,Denommé-Pichon Anne-Sophie^ORCID,Bonneau Dominique,Bruel Ange-Line^ORCID,Delanne Julian,Gérard Bénédicte,Mazel Benoît^ORCID,Philippe Christophe^ORCID,Pinson Lucile,Prouteau Clément,Putoux Audrey,Tran Mau-Them Frédéric^ORCID,Viora-Dupont Éléonore^ORCID,Vitobello Antonio^ORCID,Ziegler Alban,Piton Amélie^ORCID,Isidor Bertrand,Francannet Christine,Maillard Pierre-Yves^ORCID,Julia Sophie,Philippe Anais,Schaefer Elise,Koene Saskia,Ruivenkamp Claudia,Hoffer Mariette^ORCID,Legius Eric,Theunis Miel,Keren Boris,Buratti Julien^ORCID,Charles Perrine,Courtin Thomas,Misra-Isrie Mala,van Haelst Mieke^ORCID,Waisfisz Quinten,Wieczorek Dagmar,Schmetz Ariane,Herget Theresia,Kortüm Fanny,Lisfeld Jasmin,Debray François-Guillaume,Bramswig Nuria C.,Atallah Isis^ORCID,Fodstad Heidi,Jouret Guillaume,Almoguera Berta,Tahsin-Swafiri Saoud^ORCID,Santos-Simarro Fernando,Palomares-Bralo Maria,López-González Vanesa,Kibaek Maria,Tørring Pernille M.,Renieri Alessandra,Bruno Lucia Pia,Õunap Katrin^ORCID,Wojcik Monica,Hsieh Tzung-Chien,Krawitz Peter,Van Esch Hilde^ORCID

Funder

U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute

Fonds Wetenschappelijk Onderzoek

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01307-x.pdf

Reference20 articles.

1. Clark RD, Baraitser M. A new X-linked mental retardation syndrome. Am J Med Genet. 1987;26:13–5.

2. Louie RJ, Friez MJ, Skinner C, Baraitser M, Clark RD, Schwartz CE, et al. Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12. Am J Med Genet Part A U S. 2020;182:595–6.