Novel membrane frizzled-related protein (MFRP) gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds

PURPOSE: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, with nanophthalmos and macular folds. METHODS: Ophthalmological examination, general pediatric examination and molecular genetic analysis of the MFRP gene were performed in both affected siblings. RESULTS: Clin...

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Hlavní autoři: Wasmann, Rosemarie A., Klein Wassink-Ruiter, Jolien S., Sundin, Olof H., Morales, Elisa, Verheij, Joke B.G.M., Pott, Jan-Willem R.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3773268/
https://ncbi.nlm.nih.gov/pubmed/23742260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/aos.12105
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