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Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Publié le 2 octobre 2023
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Description
 
Date de publication12/04/2020
Auteurs
Chevarin M, Duffourd Y, R AB, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, 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 PS, Lopez G, Genevieve D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Heron D, Jean-Marcais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Riviere JB, O'Roak BJ and Faivre L
Revue
Année2 020
Institut
JACOB
Département / Service
CNRGH
Laboratoire
LBanq, LHD
Date de création 
Facteur Impact 
url DOI10.1136/jmedgenet-2019-106425

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