(Q51792855)
Statements
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. (English)
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Alain Verloes
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Elise Schaefer
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Hélène Dollfus
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Vincent Marion
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Fanny Stutzmann
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Marion Gérard
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Charlie De Melo
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Aurélie Claussmann
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Sophie Hellé
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Eric Souied
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Catherine Barrey
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Corinne Stoetzel
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17 April 2012
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49
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5
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317-321
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