Associated Papers
Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.
Saeki N et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2025
Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant.
Öztürk N et al.
The Turkish Journal of Pediatrics, 2023
A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis.
Fang X et al.
Annals of Dermatology, 2022
TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.
Wang C et al.
Molecular Genetics & Genomic Medicine, 2020
Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation.
Kantaputra PN et al.
Archives of Oral Biology, 2020
Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.
Ullah A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2018
Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.
Solc R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM et al.
European Journal of Medical Genetics, 2015
Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification.
Pereda A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014
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