Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

@article{Fischer2000TwoNL,
  title={Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.},
  author={Judith Fischer and Alexandra Faure and Bakar Bouadjar and Claudine Blanchet-Bardon and Aysen A Karaduman and Isabel Thomas and Serap Dokmeci Emre and Susan Cure and Meral Ozg{\"u}ç and Jean Weissenbach and J F Prud'homme},
  journal={American journal of human genetics},
  year={2000},
  volume={66 3},
  pages={904-13}
}
Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). A first gene for LI, transglutaminase TGM1, has been identified on chromosome 14, and a second one has been localized on chromosome 2. In a genomewide scan of nine large consanguineous families, using… CONTINUE READING