Article
Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2022
Kaneko Hideo, Takemoto Minoru, Murakami Hiroaki, Ihara Kenji, Kosaki Rika, Motegi Sei-Ichiro, Taniguchi Akira, Matsuo Muneaki, Yamazaki Naoya, Nishigori Chikako, Takita Junko, Koshizaka Masaya, Maezawa Yoshiro, Yokote Koutaro
Abstract excerpt
BACKGROUND: Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma of the face, small stature, sparse scalp hair, juvenile cataract, radial aplasia, and predisposition to cancers. Due to the rarity of RTS, the situation of patients with RTS in Japan has not been elucidated. METHODS: In 2010 and 2020, following the results of a primary questionnaire survey, a...
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