Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

<p>Abstract</p> <p>Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem ch...

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Bibliographic Details
Published in:Orphanet Journal of Rare Diseases
Main Authors: Poretti Andrea, Vitiello Giuseppina, Hennekam Raoul CM, Arrigoni Filippo, Bertini Enrico, Borgatti Renato, Brancati Francesco, D'Arrigo Stefano, Faravelli Francesca, Giordano Lucio, Huisman Thierry AGM, Iannicelli Miriam, Kluger Gerhard, Kyllerman Marten, Landgren Magnus, Lees Melissa M, Pinelli Lorenzo, Romaniello Romina, Scheer Ianina, Schwarz Christoph E, Spiegel Ronen, Tibussek Daniel, Valente Enza, Boltshauser Eugen
Format: Article
Language:English
Published: BMC 2012-01-01
Subjects:
Joubert syndrome and related disorders
Oral-facial-digital syndrome type VI
neuroimaging; molar tooth sign
cerebellar malformation
Online Access:http://www.ojrd.com/content/7/1/4

Internet

http://www.ojrd.com/content/7/1/4

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