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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

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Description scientific article published on 17 April 2012
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author: Elise Schaefer  Alain Verloes  Vincent Marion  Valerie Delague  Corinne Stoetzel  Hélène Dollfus 

Publication date April 17, 2012
Language English
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