Novel missense mutation in the EDA gene in a family affected by oligodontia

@article{RuizHeiland2015NovelMM,
  title={Novel missense mutation in the EDA gene in a family affected by oligodontia},
  author={Gisela Ruiz-Heiland and Sarah Jabir and Wolfgang Wende and Sonja Blecher and Niko Christian Bock and Sabine Ruf},
  journal={Journal of Orofacial Orthopedics / Fortschritte der Kieferorthop{\"a}die},
  year={2015},
  volume={77},
  pages={31-38}
}
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. 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. Genomic DNA was isolated from… CONTINUE READING
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