Ocular manifestations in Gorlin-Goltz syndrome

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 variants in t...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Moramarco, Antonietta, Himmelblau, Ehud, Miraglia, Emanuele, Mallone, Fabiana, Roberti, Vincenzo, Franzone, Federica, Iacovino, Chiara, Giustini, Sandra, Lambiase, Alessandro
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6749644/
https://ncbi.nlm.nih.gov/pubmed/31533758
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1190-6
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