Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes-Reference-Cited by-同舟云学术

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes

Published:2015-12 Issue:12 Volume:58 Page:689-694
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ece Solmaz Asli,Onay Huseyin,Atik Tahir,Aykut Ayca,Cerrah Gunes Meltem,Ozalp Yuregir Ozge,Bas Veysel Nijat,Hazan Filiz,Kirbiyik Ozgur,Ozkinay Ferda

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference48 articles.

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3. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome;Ansley;Nature,2003

4. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2;Badano;Am. J. Hum. Genet.,2003

5. Making sense of cilia in disease: the human ciliopathies;Baker;Am. J. Med. Genet. C Semin. Med. Genet.,2009

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