A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.

@article{Moss2004ARI,
  title={A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.},
  author={Celia Moss and Amalia Mart{\'i}nez-Mir and Hamut Lam and Marija Tadin-Strapps and Ana Kljuic and Angela M. Christiano},
  journal={The Journal of investigative dermatology},
  year={2004},
  volume={123 3},
  pages={607-10}
}
A newly defined form of inherited hair loss, named localized autosomal recessive hypotrichosis (LAH, OMIM 607903), was recently described in the literature (Kljuic et al, 2003a; Rafique et al, 2003) and shown to be linked to chromosome 18. We identified a large, intragenic deletion in the desmoglein 4 gene (DSG4) as the underlying mutation in two unrelated families of Pakistani origin (Kljuic et al, 2003a). LAH is an autosomal recessive form of hypotrichosis affecting the scalp, trunk, and… CONTINUE READING

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Structure and function of desmosomal proteins and their role in development and disease

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