Intellectual developmental disorder (IDD) with speech delay and dysmorphic facies is a group of disorders characterized by speech difficulty and intellectual disability. It has been reported that mutations in genes encoding factors mediating mRNA decay are associated with intellectual disability.
Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Bechec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A
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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Martin R, Splitt M, Genevieve D, Aten E, Collins A, de Bie CI, Faivre L, Foulds N, Giltay J, Ibitoye R, Joss S, Kennedy J, Kerr B, Kivuva E, Koopmans M, Newbury-Ecob R, Jean-Marcais N, Peeters EAJ, Smithson S, Tomkins S, Tranmauthem F, Piton A, van Haeringen A
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De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
Niceta M, Pizzi S, Inzana F, Peron A, Bakhtiari S, Nizon M, Levy J, Mancini C, Cogne B, Radio FC, Agolini E, Cocciadiferro D, Novelli A, Salih MA, Recalcati MP, Arancio R, Besnard M, Tabet AC, Kruer MC, Priolo M, Dallapiccola B, Tartaglia M
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Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
