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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
  1. 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
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Marion V, Stutzmann F, Gérard M, et al
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 
May 11, 2012

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