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

Internet

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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