학술논문
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Document Type
Article
Author
Chevarin, M.; Duffourd, Y.; Moutton, S.; Lecoquierre, F.; Daoud, F.; Kuentz, P.; Cabret, C.; Thevenon, J.; Callier, P.; St-Onge, J.; Jouan, T.; Marle, N.; Poe, C.; Assoum, M.; Carmignac, V.; Duplomb, L.; Tran Mau-Them, F.; Philippe, C.; Vitobello, A.; Bruel, A.-L.; Thauvin-Robinet, C.; Rivière, J.-B.; Faivre, L.; Gautier, E.; Jean-Marçais, N.; Huet, F.; Barnard, R.A.; O'roak, B.J.; Masurel, A.; El Chehadeh, S.; Lacombe, D.; Delrue, M.A.; Goizet, C.; Morice-Picard, F.; Van-Gils, J.; Munnich, A.; Lyonnet, S.; Cormier-Daire, V.; Baujat, G.; Holder, M.; Petit, F.; Leheup, B.; Odent, S.; Jouk, P.-S.; Lopez, G.; Geneviève, D.; Coubes, C.; Collignon, P.; Martin-Coignard, D.; Jacquette, A.; Mignot, C.; Héron, D.; Perrin, L.; Putoux, A.; Sarrazin, E.; Amarof, K.; Missotte, I.; Jagadeesh, S.; Lapi, E.; Demurger, F.; Goldenberg, A.; Doco-Fenzy, M.; Binquet, C.; Collod-Beroud, G.; Arnaud, P.; Hanna, N.; Boileau, C.; Jondeau, G.; Olaso, R.; Lechner, D.; Boland, A.; Deleuze, J.-F.
Source
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 July 2020, 57(7):466-474)
Subject
Language
English
ISSN
14686244
00222593
00222593