A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen

PURPOSE: The purpose of this study is to identify the genetic defect in a Turkish family with autosomal recessive retinitis pigmentosa, nanophthalmos, and optic disc drusen. METHODS: Ophthalmological examinations consisted of measuring the best-corrected visual acuity and the refractive error, elect...

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Main Authors: Paun, Codrut C., Pijl, Benjamin J., Siemiatkowska, Anna M., Collin, Rob W.J., Cremers, Frans P.M., Hoyng, Carel B., den Hollander, Anneke I.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Molecular Vision 2012
Ábhair:
Research Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3472923/
https://ncbi.nlm.nih.gov/pubmed/23077403
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