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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

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Description scientific article published on 5 May 2014
Author/s

author: Tommaso Mazza  Alessia Micalizzi  Enza Maria Valente  Stefano Castellana  Francesca Darra 

Publication date May 5, 2014
Language English
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