RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features-Reference-Cited by-同舟云学术

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features

Published:2020-12 Issue:6 Volume:107 Page:1157-1169
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Palmer Elizabeth E.,Carroll Renee,Shaw Marie,Kumar Raman,Minoche Andre E.,Leffler Melanie,Murray Lucinda,Macintosh Rebecca,Wright Dale,Troedson Chris,McKenzie Fiona,Townshend Sharron,Ward Michelle,Nawaz Urwah,Ravine Anja,Runke Cassandra K.,Thorland Erik C.,Hummel Marybeth,Foulds Nicola,Pichon Olivier,Isidor Bertrand,Le Caignec Cédric,Demeer Bénédicte,Andrieux Joris,Albarazi Salam Hadah,Bye Ann,Sachdev Rani,Kirk Edwin P.,Cowley Mark J.,Field Mike,Gecz Jozef^ORCID

Funder

National Health and Medical Research Council

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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3. Syndromic X-linked intellectual disability segregating with a missense variant in RLIM;Tønne;Eur. J. Hum. Genet.,2015

4. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes;Hu;Mol. Psychiatry,2016

5. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder;Frints;Mol. Psychiatry,2019

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