Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome-Reference-Cited by-同舟云学术

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Published:2014-06-11 Issue:5 Volume:23 Page:633-638
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Kolanczyk Mateusz,Krawitz Peter,Hecht Jochen,Hupalowska Anna,Miaczynska Marta,Marschner Katrin,Schlack Claire,Emmerich Denise,Kobus Karolina,Kornak Uwe,Robinson Peter N,Plecko Barbara,Grangl Gernot,Uhrig Sabine,Mundlos Stefan,Horn Denise

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014109.pdf

Reference22 articles.

1. Leonardi ML, Pai GS, Wilkes B, Lebel RR : Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. Am J Med Genet 2001; 102: 237–242.

2. Elliott AM, Simard LR, Coghlan G et al: A novel variant in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. J Med Genet 2013; 50: 819–822.

3. Craft E, Wildig CE, Crow YJ : 3C syndrome. Am J Med Genet A 2010; 152A: 1026–1027.

4. Li H, Handsaker B, Wysoker A et al: The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009; 25: 2078–2079.

5. Wang K, Li M, Hakonarson H : ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38: e164.

Cited by 44 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The proteomic landscape and temporal dynamics of mammalian gastruloid development;2024-09-07

2. Seasonal and comparative evidence of adaptive gene expression in mammalian brain size plasticity;2024-06-19

3. Structure and interactions of the endogenous human Commander complex;Nature Structural & Molecular Biology;2024-03-08

4. Mechanism and regulation of cargo entry into the Commander recycling pathway;2024-01-11

5. Structural organization of the retriever–CCC endosomal recycling complex;Nature Structural & Molecular Biology;2023-12-07