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

Marta Romani , Francesca Mancini , Alessia Micalizzi , Andrea Poretti , Elide Miccinilli , Patrizia Accorsi , Emanuela Avola , Enrico Bertini , Renato Borgatti (1) , Romina Romaniello , Serdar Ceylaner , Giangennaro Coppola , Stefano D’arrigo , Lucio Giordano , Andreas R. Janecke , Mario Lituania , Kathrin Ludwig , Loreto Martorell (2) , Tommaso Mazza , Sylvie Odent (3) , Lorenzo Pinelli , Pilar Poo , Margherita Santucci (4) , Sabrina Signorini , Alessandro Simonati (5) , Ronen Spiegel , Franco Stanzial (6) , Maja Steinlin , Brahim Tabarki , Nicole I. Wolf , Federica Zibordi , Eugen Boltshauser , Enza Maria Valente

1 Cytogenetics
2 INGEMM, Institute of Medical and Molecular Genetics
3 IGDR - Institut de Génétique et Développement de Rennes
4 Division of Anatomic Pathology, Department of Critical Care Medicine and Surgery, University of Florence Medical School
5 Department of Neurological and Visual Sciences
6 Servizio aziendale di Consulenza Genetica

Domains: Life Sciences [q-bio]

Marta Romani, Francesca Mancini, Alessia Micalizzi, Andrea Poretti, Elide Miccinilli, et al.. Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?. Human Genetics, 2015, 134 (1), pp.123-126. ⟨10.1007/s00439-014-1508-3⟩. ⟨hal-01116449⟩