A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome-Reference-Cited by-同舟云学术

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

Published:2019-05-30 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Alesi Viola¹^ORCID,Loddo Sara¹^ORCID,Calì Federica²,Orlando Valeria¹,Genovese Silvia¹^ORCID,Ferretti Daniele¹,Calacci Chiara¹,Calvieri Giusy¹,Falasca Roberto¹,Ulgheri Lucia³,Drago Fabrizio²,Dallapiccola Bruno¹,Baban Anwar²^ORCID,Novelli Antonio¹

Affiliation:

1. Department of Medical GeneticsBambino Gesù Children's Hospital, IRCCS Rome Italy

2. Department of Pediatric Cardiology and Cardiac SurgeryBambino Gesù Children's Hospital, IRCCS Rome Italy

3. Department of Biomedical SciencesClinical Genetics Service, Azienda Ospedaliero‐Universitaria Sassari Italy

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61217

Reference10 articles.

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3. CNOT2 promotes degradation of p62/SQSTM1 as a negative regulator in ATG5 dependent autophagy;Jeong K.;Oncotarget,2017

4. Interstitial deletion of chromosome 12q: Genotype‐phenotype correlation of two patients utilizing array comparative genomic hybridization;Klein O. D.;American Journal of Medical Genetics. Part A,2005

5. Analysis of protein‐coding genetic variation in 60,706 humans;Lek M.;Nature,2016

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