Original language | English |
---|---|
Pages (from-to) | 1748-1768 |
Number of pages | 21 |
Journal | Molecular Psychiatry |
Volume | 24 |
Issue number | 11 |
DOIs | |
Publication status | Published - Nov 2019 |
Keywords
- GENE UBE2A CAUSE
- CHROMOSOME INACTIVATION
- FUNCTIONAL-ACTIVITY
- LIM COFACTORS
- MUTATIONS
- PROTEIN
- RNF12
- RLIM
- NPAS3
- TRANSCRIPTION
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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. / Frints, Suzanna G. M.; Ozanturk, Aysegul; Rodriguez Criado, German; Grasshoff, Ute; de Hoon, Bas; Field, Michael; Manouvrier-Hanu, Sylvie; Hickey, Scott E.; Kammoun, Molka; Gripp, Karen W.; Bauer, Claudia; Schroeder, Christopher; Toutain, Annick; Mosher, Theresa Mihalic; 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.
In: Molecular Psychiatry, Vol. 24, No. 11, 11.2019, p. 1748-1768.Research output: Contribution to journal › Article › Academic › peer-review
TY - JOUR
T1 - Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
AU - Frints, Suzanna G. M.
AU - Ozanturk, Aysegul
AU - Rodriguez Criado, German
AU - Grasshoff, Ute
AU - de Hoon, Bas
AU - Field, Michael
AU - Manouvrier-Hanu, Sylvie
AU - Hickey, Scott E.
AU - Kammoun, Molka
AU - Gripp, Karen W.
AU - Bauer, Claudia
AU - Schroeder, Christopher
AU - Toutain, Annick
AU - Mosher, Theresa Mihalic
AU - Kelly, Benjamin J.
AU - White, Peter
AU - Dufke, Andreas
AU - Rentmeester, Eveline
AU - Moon, Sungjin
AU - Koboldt, Daniel C.
AU - van Roozendaal, Kees E. P.
AU - Hu, Hao
AU - Haas, Stefan A.
AU - Ropers, Hans-Hilger
AU - Murray, Lucinda
AU - Haan, Eric
AU - Shaw, Marie
AU - Carroll, Renee
AU - Friend, Kathryn
AU - Liebelt, Jan
AU - Hobson, Lynne
AU - De Rademaeker, Marjan
AU - Geraedts, Joep
AU - Fryns, Jean-Pierre
AU - Vermeesch, Joris
AU - Raynaud, Martine
AU - Riess, Olaf
AU - Gribnau, Joost
AU - Katsanis, Nicholas
AU - Devriendt, Koen
AU - Bauer, Peter
AU - Gecz, Jozef
AU - Golzio, Christelle
AU - Gontan, Cristina
AU - Kalscheuer, Vera M.
PY - 2019/11
Y1 - 2019/11
KW - GENE UBE2A CAUSE
KW - CHROMOSOME INACTIVATION
KW - FUNCTIONAL-ACTIVITY
KW - LIM COFACTORS
KW - MUTATIONS
KW - PROTEIN
KW - RNF12
KW - RLIM
KW - NPAS3
KW - TRANSCRIPTION
U2 - 10.1038/s41380-018-0065-x
DO - 10.1038/s41380-018-0065-x
M3 - Article
VL - 24
SP - 1748
EP - 1768
JO - Molecular Psychiatry
JF - Molecular Psychiatry
SN - 1359-4184
IS - 11
ER -