Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters

This report details two novel RAB3GAP1 mutations causing Warburg Micro syndrome, a rare autosomal recessive disorder characterized by multiple organ abnormalities involving the ocular, nervous, and endocrine systems. Two Italian sisters were referred to our department for the assessment of congenita...

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Detalles Bibliográficos
Autores principales: Loiudice, Pasquale, Napoli, Debora, Ragone, Maria Cristina, Nardi, Marco, Casini, Giamberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890559/
https://www.ncbi.nlm.nih.gov/pubmed/29675078
http://dx.doi.org/10.4103/jpn.JPN_45_17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890559/
https://www.ncbi.nlm.nih.gov/pubmed/29675078
http://dx.doi.org/10.4103/jpn.JPN_45_17

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