Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
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| Description | scientific article |
| Author/s |
author: Sveva Romani Bill H Diplas Friedhelm Hildebrandt Soumaya Mougou-Zerelli Barbara Illi Bruno Dallapiccola Sophie Thomas Carsten Russ Annalisa Mazzotta Eugen Boltshauser Edgar A. Otto Dorit Lev Carrie Sougnez Stacey Gabriel Joseph G Gleeson Lorena Travaglini Chris F. Inglehearn Charles M Strom Bruria Ben Zeev Carmelo D Salpietro Jerlyn C Tolentino Arnold Munnich Enza Maria Valente Michel Vekemans Clare Victoria Logan Nadia Elkhartoufi Dominika Swistun Stavit A Shalev Sophie Saunier Nicholas Katsanis Francesco Brancati Jennifer L Silhavy Miriam Iannicelli Kristian Cibulskis Mario Mikula |
| Publication date | July 2010 |
| Language | English |
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