Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions.

@article{Indelman2003CompoundHF,
  title={Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions.},
  author={Margarita Indelman and Reuven Bergman and Gilles G. Lestringant and Gil Peer and Eli Sprecher},
  journal={The British journal of dermatology},
  year={2003},
  volume={148 3},
  pages={553-7}
}
BACKGROUND Congenital atrichias represent a complex and heterogeneous group of genodermatoses, which have been shown in several consanguineous families to result from homozygous mutations in the hairless gene (HR). OBJECTIVES To identify the molecular basis of congenital atrichia in a non-consanguineous family. METHODS Genetic analysis was carried out in a two-generation family with two children with congenital atrichia and one healthy child. RESULTS We established a diagnosis of atrichia… CONTINUE READING