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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...
Gardado en:
| Publicado en: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2019
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| Assuntos: | |
| Acceso en liña: | 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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