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Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children

Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the CYP21A2 gene, with 21-hydroxylase deficiency (21-OHD) as the most common type. Early sex assignment and early diagnosis of different genetic variations with a proper technique are important to...

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Detalles Bibliográficos
Autores principales:	Tolba, Aisha, Mandour, Iman, Musa, Noha, Elmougy, Fatma, Hafez, Mona, Abdelatty, Sahar, Ibrahim, Amany, Soliman, Hend, Labib, Bahaaeldin, Elshiwy, Yasmine, Ramzy, Tarek, Elsharkawy, Marwa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8924405/ https://www.ncbi.nlm.nih.gov/pubmed/35309130 http://dx.doi.org/10.3389/fgene.2022.785570

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