John Libbey Eurotext

European Journal of Dermatology


A novel missense mutation in exon 3 of the TRPS1 genein a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1 Volume 28, numéro 2, March-April 2018


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1 Department of Dermatology, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
2 Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan

Tricho-rhino-phalangeal syndrome (TRPS) is a genetic disorder characterized by sparse hair and craniofacial and skeletal abnormalities. Three distinct types of TRPS exist: TRPS I (MIM 190350), TRPS II (MIM 150230), and TRPS III (MIM 190351). TRPS I is characterized by sparse and slow-growing scalp hair, sparse lateral eyebrows, a pear-shaped nose, a thin upper lip, brachydactyly, cone-shaped epiphysis, and protruding ears. In addition to the clinical features of TRPS I, TRPS III patients show more [...]