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MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

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Description scientific article
Author/s

author: Bruno Dallapiccola  Alain Verloes  Annalisa Mazzotta  Eugen Boltshauser  Elisa Fazzi  Joseph G Gleeson  Lorena Travaglini  Luciana Rigoli  Carmelo D Salpietro  Chiara Pantaleoni  Enza Maria Valente  International JSRD Study Group  Miriam Iannicelli  Sabrina Signorini  Enrico Bertini 

Publication date February 1, 2009
Language English
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