A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1

作者:Torai Ryotaro; Makino Teruhiko; Mizawa Megumi; Shimomura Yutaka; Shimizu Tadamichi
来源:European Journal of Dermatology, 2018, 28(2): 271-272.
DOI:10.1684/ejd.2018.3233