Associated Papers
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK et al.
European Journal of Medical Genetics, 2024
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
Elli FM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM et al.
European Journal of Medical Genetics, 2015
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.
Sidler JA et al.
Clinical Dysmorphology, 2012
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