Syndromic X-linked intellectual disability segregating with a missense variant in RLIM-Reference-Cited by-同舟云学术

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM

Published:2015-03-04 Issue:12 Volume:23 Page:1652-1656
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Tønne Elin,Holdhus Rita,Stansberg Christine,Stray-Pedersen Asbjørg,Petersen Kjell,Brunner Han G,Gilissen Christian^ORCID,Hoischen Alexander,Prescott Trine,Steen Vidar M,Fiskerstrand Torunn

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201530.pdf

Reference21 articles.

1. Lubs HA, Stevenson RE, Schwartz CE : Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet 2012; 90: 579–590.

2. Jacquemont S, Coe BP, Hersch M et al: A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am J Hum Genet 2014; 94: 415–425.

3. Girirajan S, Brkanac Z, Coe BP et al: Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet 2011; 7: e1002334.

4. Parikshak NN, Luo R, Zhang A et al: Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell 2013; 155: 1008–1021.

5. Gilissen C, Arts HH, Hoischen A et al: Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 2010; 87: 418–423.

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