Konstantinos Agiannitopoulos, Kevisa Potska, Anna Douka, Iphigenia Gintoni, Georgios N Tsaousis, Eirini Papadopoulou, George Nasioulas, Christos Yapijakis
OBJECTIVE: Identify the disease-causing mutation in a patient with features of X-linked hypohidrotic ectodermal dysplasia, which is a genetic disorder characterized by hypodontia, hypohidrosis and hypotrichosis. It is caused by mutations in Ectodysplasin A gene, which encodes ectodysplasin A, a member of the tumor necrosis factor superfamily. DESIGN: Genetic analysis, was performed using chromosomal microarray analysis, whole exome sequencing and multiplex ligation-dependent probe amplification analysis in a 4-year-old boy with hypohidrotic ectodermal dysplasia features...
March 24, 2023: Archives of Oral Biology