Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disa...
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
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Author / Creator
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 , Mihalic Mosher, Theresa , Kelly, Benjamin J. , White, Peter , 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 , 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 , Golzio, Christelle , Gontan, Cristina and Kalscheuer, Vera M.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84 individuals from nine unrelated families, eight of whom who have pathogenic variants in
RLIM
...
Alternative Titles
Full title
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
Authors, Artists and Contributors
Author / Creator
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
Mihalic Mosher, Theresa
Kelly, Benjamin J.
White, Peter
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
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
Golzio, Christelle
Gontan, Cristina
Kalscheuer, Vera M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03677837v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03677837v1
Other Identifiers
ISSN
1359-4184,1476-5578
E-ISSN
1476-5578
DOI
10.1038/s41380-018-0065-x
