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A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report
RATIONALE: Warburg Micro syndrome is a rare, autosomal recessive disorder characterized by multiple organ abnormalities involving the ocular, nervous, and genital systems. This case report describes a novel mutation in the RAB3GAP1 gene associated with Warburg Micro syndrome. PATIENT CONCERNS: A 6-m...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7808449/ https://www.ncbi.nlm.nih.gov/pubmed/33466118 http://dx.doi.org/10.1097/MD.0000000000022902 |