Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). We sequenced C5orf42 in 313 JS probands and identified mutations in 28 (8.9 %), most with a phenotype of pure...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, Coppola, Giangennaro, D’Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R., Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I., Zibordi, Federica, Boltshauser, Eugen, Valente, Enza Maria
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4282684/
https://ncbi.nlm.nih.gov/pubmed/25407461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-014-1508-3
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