Publications by authors named "Sarah Jabir"
Background: Mutations in the EDA-EDAR-EDARADD genes and more recently, mutations in the WNT10A gene have been described as the cause of syndromic and nonsyndromic tooth agenesis concomitant with diverse abnormalities of ectodermally derived tissues.
Aim: In the present investigation, two brothers presenting severe tooth agenesis (oligodontia) concomitant with subtle signs of ectodermal dysplasia (ED) symptoms, as well as six family relatives were analyzed for a causative mutation.
Methods: Genomic DNA was isolated from saliva, and genetic screening performed via direct sequencing of PCR fragments covering the entire coding regions and the intron-exon junctions of the EDA, EDAR, EDARADD as well as the WNT10A genes.
Objectives: The goal of this work was to identify all known gene mutations that have been associated with the development of nonsyndromic oligodontia.
Methods: A systematic literature search was performed electronically in two databases (PubMed, Medpilot) supplemented by a hand search. Articles published up to March 2012 were considered.