Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder-Reference-Cited by-同舟云学术

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Published:2018-05-04 Issue:11 Volume:24 Page:1748-1768
ISSN:1359-4184
Container-title:Molecular Psychiatry
language:en
Short-container-title:Mol Psychiatry

Author:

Frints Suzanna G. M.,Ozanturk Aysegul,Rodríguez Criado Germán,Grasshoff Ute,de Hoon Bas,Field Michael,Manouvrier-Hanu Sylvie,E. Hickey Scott,Kammoun Molka,Gripp Karen W.,Bauer Claudia,Schroeder Christopher,Toutain Annick^ORCID,Mihalic Mosher Theresa^ORCID,Kelly Benjamin J.,White Peter^ORCID,Dufke Andreas,Rentmeester Eveline,Moon Sungjin,Koboldt Daniel C,van Roozendaal Kees E. P.,Hu Hao,Haas Stefan A.,Ropers Hans-Hilger,Murray Lucinda,Haan Eric^ORCID,Shaw Marie,Carroll Renee,Friend Kathryn,Liebelt Jan,Hobson Lynne,De Rademaeker Marjan,Geraedts Joep,Fryns Jean-Pierre,Vermeesch Joris,Raynaud Martine,Riess Olaf,Gribnau Joost,Katsanis Nicholas,Devriendt Koen,Bauer Peter,Gecz Jozef^ORCID,Golzio Christelle,Gontan Cristina,Kalscheuer Vera M.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Molecular Biology

Link

http://www.nature.com/articles/s41380-018-0065-x.pdf

Reference95 articles.

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2. Gontan C, Achame EM, Demmers J, Barakat TS, Rentmeester E, van IW, et al. RNF12 initiates X-chromosome inactivation by targeting REX1 for degradation. Nature. 2012;485:386–90.

3. Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, et al. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry. 2016;21:133–48.

4. Tonne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, et al. Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. Eur J Hum Genet. 2015;23:1652–6.

5. Rodriguez Criado G. [New X linked mental retardation syndrome]. An De Pediatr. 2012;76:184–191.

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