A locus for hereditary hypotrichosis localized to human chromosome 18q21.1

@article{Rafique2003ALF,
  title={A locus for hereditary hypotrichosis localized to human chromosome 18q21.1},
  author={Muhammad Arshad Rafique and Muhammad Ansar and Syed Muhammad Khalid Jamal and Sajid Malik and Muhammad Ahmed Sohail and Mohammad Faiyaz-Ul-Haque and Sayedul Haque and Suzanne M. Leal and Wasim Ahmad},
  journal={European Journal of Human Genetics},
  year={2003},
  volume={11},
  pages={623-628}
}
Hereditary hypotrichosis is a rare autosomal recessive condition characterized clinically by alopecia. Three consanguineous kindreds with multiple affected individuals were ascertained from different regions of Pakistan. A novel hypotrichosis locus was mapped to a 5.5 cM region on chromosome 18q21.1. A maximum two-point LOD score of 5.25 was obtained at marker D18S36 (θ=0.0). Three genes each for desmoglein and desmocollin proteins are located in this region. The expression in epidermal… CONTINUE READING
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