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Nanophthalmos patient with a THR518MET mutation in MYRF, a case report

BACKGROUND: Nanophthalmos has a significant genetic background and disease-causing mutations have been recently been reported in the myelin regulatory factor (MYRF) gene. We report clinical features in a patient with nanophthalmos and a Thr518Met MYRF mutation. CASE PRESENTATION: A three-year-old ma...

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Detalles Bibliográficos
Autores principales:	Hagedorn, Joshua, Avdic, Armin, Schnieders, Michael J., Roos, Benjamin R., Kwon, Young H., Drack, Arlene V., Boese, Erin A., Fingert, John H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7528587/ https://www.ncbi.nlm.nih.gov/pubmed/33004036 http://dx.doi.org/10.1186/s12886-020-01659-8

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