Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants-Reference-Cited by-同舟云学术

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants

Published:2017-02-01 Issue:1 Volume:18 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Esposito Gabriella,Testa Francesco,Zacchia Miriam,Crispo Anna Alessia,Di Iorio Valentina,Capolongo Giovanna,Rinaldi Luca,D’Antonio Marcella,Fioretti Tiziana,Iadicicco Pasquale,Rossi Settimio,Franzè Annamaria,Marciano Elio,Capasso Giovanbattista,Simonelli Francesca,Salvatore Francesco^ORCID

Funder

Italian Ministry of University and Research

Regione Campania

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-017-0372-0.pdf

Reference26 articles.

1. Zaghloul NA, Katsanis N. Mechanistic insights into Bardet–Biedl syndrome, a model ciliopathy. J Clin Invest. 2009;119:428–37.

2. O’Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J. The importance of renal impairment in the natural history of Bardet–Biedl syndrome. Am J Kidney Dis. 1996;27:776–83.