John Libbey Eurotext

European Journal of Dermatology


A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome Volume 28, numéro 1, January-February 2018


  • Figure 1
Department of Dermatology, University of Occupational and Environmental Health, Japan

Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder clinically characterized by sparse scalp hair, sparse lateral eyebrows, a bulbous nose, an elongated philtrum, a thin upper lip, a receding chin, and brachydactyly [1]. TRPS is clinically divided into two subtypes, TRPS type I and II [1]. Mutations in the TRPS1 gene at chromosome 8q24.1 are responsible for TRPS type I [1]. In TRPS type II (Langer-Giedion syndrome), the clinical features of TRPS type I are combined with multiple [...]