Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.

@article{Indelman2005MolecularBO,
  title={Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.},
  author={Margarita Indelman and Rina Leibu and Ahmad Essa Jammal and R. Theodore Bergman and Eli Sprecher},
  journal={The British journal of dermatology},
  year={2005},
  volume={153 3},
  pages={
          635-8
        }
}
BACKGROUND Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characterized by sparse and short scalp hair from birth, followed within a few years by progressive macular degeneration leading to blindness. HJMD was shown to result from mutations in CDH3 encoding P-cadherin. OBJECTIVES In the present study, we attempted to identify the molecular basis of abnormal hair growth in two siblings of Arab Muslim origin with hypotrichosis but no visual symptoms… CONTINUE READING
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