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The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population

ObjectiveCongenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the CYP21A2 gene. After a high prevalence of classic 21-OHD CAH in the Romani population was reported in the Republic of North Macedonia...

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Principais autores: Katja K. Dumic, Zorana Grubic, Vesna Kusec, Duje Braovac, Kristina Gotovac, Maja Vinkovic, Maja Vucinic, Miroslav Dumic
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2023-05-01
Colecção:Frontiers in Endocrinology
Assuntos:
congenital adrenal hyperplasia
founder mutation
Romani tribes
consanguinity
CYP21A2 heterozygous advantage
Romani Holocaust
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fendo.2023.1170449/full
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