X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

@article{Clauss2010XlinkedAA,
  title={X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.},
  author={François Clauss and Nicolas Chassaing and Asmae Smahi and Marie C Vincent and Patrick Calvas and Muriel Molla and Herv{\'e} Lesot and Yves Alembik and Smail Hadj-Rabia and Christine Bodemer and Marie C{\'e}cile Mani{\`e}re and Matthieu Schmittbuhl},
  journal={Clinical genetics},
  year={2010},
  volume={78 3},
  pages={257-66}
}
Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of ectodermal structures and its molecular etiology corresponds to mutations of EDA-EDAR genes. The aim of this study was first to investigate the genotype and dental phenotype associated with HED and second, to explore possible correlations between dental features and molecular defects. A total of 27 patients from 24 unrelated families exhibiting clinical signs of HED (22 XLHED males, 5 autosomal recessive forms… CONTINUE READING