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Conradi-Hunermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).
Arnold AW, Bruckner-Tuderman L, Has C, Happle R. Arnold AW, et al. Br J Dermatol. 2012 Jun;166(6):1309-13. doi: 10.1111/j.1365-2133.2012.10808.x. Epub 2012 Mar 27. Br J Dermatol. 2012. PMID: 22229330 Review.
We review all published cases of CHH syndrome in males in the literature and elaborate the clinical and genetic differences between CHH syndrome in males and MEND syndrome. RESULTS: We found at position 33 of the EBP gene the variant c.33C>A leading to the same n …
We review all published cases of CHH syndrome in males in the literature and elaborate the clinical and genetic differences between CHH synd …