A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum-Reference-Cited by-同舟云学术

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

Published:2015-03-03 Issue:4 Volume:167 Page:797-801
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Guida Valentina¹,Sinibaldi Lorenzo¹,Pagnoni Mario²,Bernardini Laura¹,Loddo Sara¹,Margiotti Katia³⁴,Digilio Maria Cristina⁵,Fadda Maria Teresa²,Dallapiccola Bruno⁵,Iannetti Giorgio²,Alessandro De Luca¹

Affiliation:

1. IRCCS-Casa Sollievo della Sofferenza; Mendel Institute; Rome Italy

2. Department of Maxillo-Facial Surgery; Policlinico Umberto I; Rome Italy

3. Laboratory of Molecular Medicine and Biotechnology; CIR; Campus Bio-Medico University of Rome; Rome Italy

4. Department of Experimental Medicine; Policlinico Umberto I; Sapienza University of Rome; Rome Italy

5. Bambino Gesù Pediatric Hospital; Piazza S. Onofrio 4; Rome Italy

Funder

Ministero della Salute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36951/fullpdf

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3. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication;Ballesta-Martinez;Am J Med Genet A,2013

4. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication;Ballif;Mol Cytogenet,2008

5. Clinical impact of copy number variation analysis using high-resolution microarray technologies: Advantages, limitations and concerns;Coughlin;Genome Med,2012

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