Search Results - "Polling, Jan R"

Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development by Haarman, Annechien E G, Enthoven, Clair A, Tedja, Milly S, Polling, Jan R, Tideman, J Willem L, Keunen, Jan E E, Boon, Camiel J F, Felix, Janine F, Raat, H, Geerards, Annette J M, Luyten, Gregorius P M, van Rijn, Gwyneth A, Verhoeven, Virginie J M, Klaver, Caroline C W

“…To study the relatively high effect of the refractive error gene GJD2 in human myopia, and to assess its relationship with refractive error, ocular biometry…”
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Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene by Mazijk, Ralph, Haarman, Annechien E.G., Hoefsloot, Lies H., Polling, Jan R., Tienhoven, Marianne, Klaver, Caroline C.W., Verhoeven, Virginie J.M., Loudon, Sjoukje E., Thiadens, Alberta A.H.J., Kievit, Anneke J.A.

“…This study describes the clinical spectrum and genetic background of high myopia caused by mutations in the ARR3 gene. We performed an observational case…”
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