Article
Genotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.
American journal of medical genetics. Part A - 1 Nov 2025
Patrón-Romero Leslie, Lepe Marco Antonio Hernández, Torres José de Jesús Manríquez, Aguirre-Gómez Diego Daniel, Hayashi-Mercado Natsuo, Uribe Genaro Rodríguez, Cerón Tadeo, Ruiz-Gamboa María, Gándara-Mireles Jesús Alonso, Lares-Asseff Ismael, Loera-Castañeda Verónica, Alvelais-Palacios Jorge, Arzamendi-Cepeda Lucrecia, Castañeda-González Lidia Magdalena, García-Barrón Adolfo, Herrera Francisco Yamal Quiroz, González-Salazar Francisco, Almanza-Reyes Horacio
Abstract excerpt
Keratosis-ichthyosis-deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American patient. Our aim is to establish extensive genotype-phenotype correlations,...
Topics
Join the communities discussing this publication.