Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
Hideo KanekoMinoru TakemotoHiroaki MurakamiKenji IharaRika KosakiSei-Ichiro MotegiAkira TaniguchiMuneaki MatsuoNaoya YamazakiChikako NishigoriJunko TakitaMasaya KoshizakaYoshiro MaezawaKoutaro YokotePublished in: Pediatrics international : official journal of the Japan Pediatric Society (2022)
Two nationwide surveys have shown the actual situation of patients with RTS in Japan. Cutaneous and bone manifestations are important for the diagnosis of RTS. However, many patients have no RECQL4 mutations. The novel causative gene of RTS should be further elucidated.