Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome

BACKGROUND AND PURPOSE: Warburg Micro syndrome (WARBM) is a rare autosomal recessive genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a phenotypically and genetically heterogeneous syndrome caused by mutations in RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20. Here we p...

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Detalles Bibliográficos
Autores principales: Kerkeni, Nesrine, Kharrat, Maher, Maazoul, Faouzi, Boudabous, Hela, M’rad, Ridha, Trabelsi, Mediha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Neurological Association 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8926778/
https://www.ncbi.nlm.nih.gov/pubmed/35196747
http://dx.doi.org/10.3988/jcn.2022.18.2.214

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