Ocular manifestations in Gorlin-Goltz syndrome

Ocular manifestations in Gorlin-Goltz syndrome

Abstract Background Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is caused in 85% of the cases with a known etiology by pathogenic varia...

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Bibliographic Details
Main Authors: Antonietta Moramarco, Ehud Himmelblau, Emanuele Miraglia, Fabiana Mallone, Vincenzo Roberti, Federica Franzone, Chiara Iacovino, Sandra Giustini, Alessandro Lambiase
Format: Article
Language:English
Published: BMC 2019-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Gorlin-Goltz syndrome
Gorlin syndrome
Nevoid basal cell carcinoma syndrome
Odontogenic keratocyst
Ocular anomalies
Myelinated optical nerve fiber layers
Online Access:http://link.springer.com/article/10.1186/s13023-019-1190-6

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http://link.springer.com/article/10.1186/s13023-019-1190-6

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