Open AccessA report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters
Author(s) -
Fernando Espinosa-Herrera,
Ana M Tito-Álvarez,
Estefanía Espín,
Diego Gómez-Correa,
Iván Dueñas-Espín,
Jorge PintoBasto
Publication year - 2019
Publication title -
proceedings of mol2net 2019, international conference on multidisciplinary sciences, 5th edition
Language(s) - English
Resource type - Conference proceedings
DOI - 10.3390/mol2net-05-06245
Subject(s) - congenital adrenal hyperplasia , endocrinology , medicine , missense mutation , cyp17a1 , hypergonadotropic hypogonadism , consanguinity , frameshift mutation , adrenal insufficiency , mutation , biology , pediatrics , genetics , hormone , gene