This is a preview of subscription content, log in via an institution to check access.
References
Momeni P, Glockner G, Schmidt O, et al. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet 2000; 24: 71–4.
Farooq M, Fujikawa H, Fujimoto A, et al. A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I. Int J Dermatol 2014; 53: 1012–5.
Napierala D, Sam K, Morello R, et al. Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome. Hum Mol Genet 2008; 17: 2244–54.
Ludecke HJ, Schaper J, Meinecke P, et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 2001; 68: 81–91.
Flores-Cuevas A, Mutchinick O, Morales-Suárez JJ, et al. Identification of two novel mutations in TRPS1 gene in families with tricho-rhino-phalangeal type I syndrome. J Investig Med 2012; 60: 823–6.
Rossi A, Devirgiliis V, Panasiti V, et al. Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I. Br J Dermatol 2007; 157: 1021–4.
Author information
Authors and Affiliations
Corresponding author
About this article
Cite this article
Torai, R., Makino, T., Mizawa, M. et al. 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. Eur J Dermatol 28, 271–272 (2018). https://doi.org/10.1684/ejd.2018.3233
Published:
Issue Date:
DOI: https://doi.org/10.1684/ejd.2018.3233