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New disease loci
Short report
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly
- Correspondence to Dr Vincent Marion, Laboratoire de Génétique Médicale EA 3949 Inserm Avenir, Université de Strasbourg, 11 rue Humann, Strasbourg 67085, France; vincent.marion{at}unistra.fr
Citation
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly
Publication history
- Received January 2, 2012
- Accepted March 9, 2012
- First published April 17, 2012.
Online issue publication
April 27, 2016
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© 2012, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.