Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.

doi:10.3390/ijms25021271

Article

Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.

International journal of molecular sciences - 20 Jan 2024

Nagy Nikoletta, Pal Margit, Kun Jozsef, Galik Bence, Urban Peter, Medvecz Marta, Fabos Beata, Neller Alexandra, Abdolreza Aliasgari, Danis Judit, Szabo Viktoria, Yang Zhuo, Fenske Stefanie, Biel Martin, Gyenesei Attila, Adam Eva, Szell Marta

Abstract excerpt

Albinism is characterized by a variable degree of hypopigmentation affecting the skin and the hair, and causing ophthalmologic abnormalities. Its oculocutaneous, ocular and syndromic forms follow an autosomal or X-linked recessive mode of inheritance, and 22 disease-causing genes are implicated in their development. Our aim was to clarify the genetic background of a Hungarian albinism cohort. Using a 22-gene...

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Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.

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