Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1

OBJECTIVES: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by salt wasting or virilization. 21 hydroxylase deficiency (21-OHD) accounts for 90–95% of all cases of CAH and caused by the genetic defects of CYP21A2. Other forms include 3-β-hydroxysteroid d...

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Detalles Bibliográficos
Autores principales: Koprulu, Ozge, Ozkan, Behzat, Acar, Sezer, Nalbantoglu, Ozlem, Ozkaya Donmez, Beyhan, Arslan, Gulcin, Hazan, Filiz, Gursoy, Semra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Med Bull Sisli Etfal Hosp 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9350054/
https://www.ncbi.nlm.nih.gov/pubmed/35990289
http://dx.doi.org/10.14744/SEMB.2021.28044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9350054/
https://www.ncbi.nlm.nih.gov/pubmed/35990289
http://dx.doi.org/10.14744/SEMB.2021.28044

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