TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology

    April 2020 in “ Journal of dermatology ”
    Piranit Nik Kantaputra, Dhirawat Jotikasthira, Bruce M. Carlson … Kanich Tripuwabhrut
    Studysummary This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
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    Research cited in this study 5

    1. Keratinocyte Cytokine Networks Associated With Human Melanocytic Nevus Development Journal of Investigative Dermatology · 2018
    2. Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient Annals of Dermatology · 2017
    3. Trichorhinophalangeal Syndrome with Low Expression of TRPS1 on Epidermal and Hair Follicle Epithelial Cells The Journal of Dermatology · 2013
    4. Trps1 Activates a Network of Secreted Wnt Inhibitors and Transcription Factors Crucial to Vibrissa Follicle Morphogenesis Development · 2011
    5. The Disruption of Sox21-Mediated Hair Shaft Cuticle Differentiation Causes Cyclic Alopecia in Mice Proceedings of the National Academy of Sciences · 2009