High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation

High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Dermatological Science - Volume 51, Issue 1, July 2008, Pages 62-65

Ayano Umekoji, Kazuyoshi Fukai, Takeshi Kasama, Toshiaki Yokoi, Mika Saito, Akitoshi Tsuruhara, Masamitsu Ishii,