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Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.

Acta chimica Slovenica - 1 Sept 2021

Hovnik Tinka, Debeljak Maruša, Tekavčič Pompe Manca, Bertok Sara, Battelino Tadej, Stirn Kranjc Branka, Trebušak Podkrajšek Katarina

Abstract excerpt

Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach. In as much as 20 out of 25 patients, genetic variants explaining their clinical phenotype were identified. The great majority of...

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PMID: 34897530

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