Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba.
Tania Mayvel Espinosa ReyesTeresa Collazo MesaPaulina Arasely Lantigua CruzAdriana Agramonte MachadoEmma Domínguez AlonsoHenrik FalhammarPublished in: International journal of endocrinology (2021)
The correlation between the detected molecular defect and the clinical expression of 21OHD was reasonable in the Cuban population, which could allow phenotypic predictions to be made from the genotype.