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

Co-Occurrence of a Pathogenic <i>HSD3B2</i> 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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Bibliographic Details
Main Authors: Simona Mellone, Enrica Bertelli, Barbara Roviglione, Denise Vurchio, Sara Ronzani, Andrea Secco, Enrico Felici, Mariachiara Martina Strozzi, Federico Schena, Mara Giordano
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Genes
Subjects:
<i>HSD3B2</i>
congenital adrenal hyperplasia
aCGH-SNP
LCSH
Online Access:https://www.mdpi.com/2073-4425/13/12/2190

Internet

https://www.mdpi.com/2073-4425/13/12/2190

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