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pro vyhledávání: '"Teerapat Wongmaneerung"'
Autor:
Worrachet Intachai, Teerapat Wongmaneerung, Bruce M. Carlson, W. Powcharoen, Dhirawat Jotikasthira, Piranit Nik Kantaputra, Natalina Quarto, Theerapong Khankasikum, Kanich Tripuwabhrut
Publikováno v:
The Journal of Dermatology. 47:774-778
Trichorhinophalangeal syndrome type 1 (TRPS1; Online Mendelian Inheritance in Man #190350) is an autosomal dominant disorder caused by mutations in TRPS1. We report a Thai male with TRPS1 who carried a c.1842C>T (p.Arg615Ter) mutation. He had 15 supe