Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

    Margarita Indelman, Christian Hamel, Reuven Bergman, Ken K. Nischal, Dorothy Thompson, Marie-Odile Surget, Michal Ramon, Hatam Ganthos, Benjamin Miller, Gabriele Richard, Raziel Lurie, Rina Leibu, Isabelle Russell‐Eggitt, Eli Sprecher
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    Studysummary In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
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