Clinical and mutational characteristics of oculocutaneous albinism type 7

Autor: C. C. Kruijt, G. C. de Wit, H. M. van Minderhout, N. E. Schalij-Delfos, M. M. van Genderen

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-6 (2024)

Abstract The purpose of this paper is to expand on the phenotype of oculocutaneous albinism type 7 (OCA7). We described three patients with OCA7: two from a consanguineous family of Kurdish origin and one patient of Dutch origin. We compared them wit

Externí odkaz: https://doaj.org/article/da192aa1619a40f5a03595ba203a33ce

Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4

Autor: M. M. van Genderen, G. C. de Wit, Ralph J. Florijn, C. C. Kruijt, Nicoline E. Schalij-Delfos

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Scientific Reports, 11(1). NATURE PORTFOLIO
Scientific Reports
Scientific reports, 11(1):11572. Nature Publishing Group

To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Du

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75ff87db75218d7b67270c4cb6efef65
https://hdl.handle.net/1887/3213213