Article
Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.
International journal of hematology - 1 Nov 2015
Yamaguchi Hiroki, Sakaguchi Hirotoshi, Yoshida Kenichi, Yabe Miharu, Yabe Hiromasa, Okuno Yusuke, Muramatsu Hideki, Takahashi Yoshiyuki, Yui Shunsuke, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Inokuchi Koiti, Ito Etsuro, Ogawa Seishi, Kojima Seiji
Abstract excerpt
Dyskeratosis congenita (DKC) is an inherited bone marrow failure (BMF) syndrome typified by reticulated skin pigmentation, nail dystrophy, and mucosal leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is considered to be a severe form of DKC. Unconventional forms of DKC, which develop slowly in adulthood but without the physical anomalies characteristic of DKC (cryptic DKC), have been reported. Clinical and...
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