Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case-Reference-Cited by-同舟云学术

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case

Published:2015-11-05 Issue:1 Volume:8 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Tassano Elisa,Gimelli Stefania,Divizia Maria Teresa,Lerone Margherita,Vaccari Carlotta,Puliti Aldamaria,Gimelli Giorgio

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-015-0188-6

Reference36 articles.

1. Kirov G. A The role of copy number variation in schizophrenia. Expert Rev Neurother. 2010;10:25–32.

2. Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet. 2009;46:223–32.

3. Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 2010;6:e1000962.

4. Vassos E, Collier DA, Holden S, Patch C, Rujescu D, St Clair D, et al. Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet. 2010;19:3477–81.

5. Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, et al. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature. 2010;463:671–5.

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