Article
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.
The Journal of investigative dermatology - 1 Nov 2003
Indelman Margarita, Hamel Christian P, Bergman Reuven, Nischal Ken K, Thompson Dorothy, Surget Marie-Odile, Ramon Michal, Ganthos Hatam, Miller Benjamin, Richard Gabriele, Lurie Raziel, Leibu Rina, Russell-Eggitt Isabelle, Sprecher Eli
Abstract excerpt
Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by abnormal growth of scalp hair during infancy, and by the later occurrence of macular degeneration leading to blindness during the first to third decade of life. Hypotrichosis with juvenile macular dystrophy was recently shown to result from mutations in CDH3 encoding P-cadherin. In this study, we assessed 27...
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