Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation of KRT5 in a unique Chinese family with generalized Dowling-Degos disease.

@article{Li2016GenomewideLA,
  title={Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation of KRT5 in a unique Chinese family with generalized Dowling-Degos disease.},
  author={Ming Li and Jing Wang and J Zhang and Cheng Ni and Xiaoliang Li and J. Liang and Ruhong Cheng and Z Li and Z Yao},
  journal={The British journal of dermatology},
  year={2016},
  volume={174 3},
  pages={663-6}
}
DEAR EDITOR, Dowling–Degos disease (DDD) is a rare autosomal dominant genodermatosis characterized by reticulate pigmentation of the flexures in combination with an irregular elongation of thin branching rete ridges in histopathology. A special form called generalized DDD has also been reported, which presents predominantly with hyperand/or hypopigmented… CONTINUE READING