Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme deficiencies required for cortisol biosynthesis in the adrenal cortex. The majority of CAH are due to the deficiency of the 21-hydroxylase enzyme, while 3β-hydroxysteroid dehydrogenase type 2 deficiency...

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Detalles Bibliográficos
Autores principales: Mellone, Simona, Bertelli, Enrica, Roviglione, Barbara, Vurchio, Denise, Ronzani, Sara, Secco, Andrea, Felici, Enrico, Strozzi, Mariachiara Martina, Schena, Federico, Giordano, Mara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777535/
https://www.ncbi.nlm.nih.gov/pubmed/36553457
http://dx.doi.org/10.3390/genes13122190

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