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Title: TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
Authors: Piranit Nik Kantaputra
Dhirawat Jotikasthira
Bruce Carlson
Teerapat Wongmaneerung
Natalina Quarto
Theerapong Khankasikum
Warit Powcharoen
Worrachet Intachai
Kanich Tripuwabhrut
Keywords: Medicine
Issue Date: 1-Jul-2020
Abstract: © 2020 Japanese Dermatological Association Trichorhinophalangeal syndrome type 1 (TRPS1; Online Mendelian Inheritance in Man #190350) is an autosomal dominant disorder caused by mutations in TRPS1. We report a Thai male with TRPS1 who carried a c.1842C>T (p.Arg615Ter) mutation. He had 15 supernumerary teeth, double mental foramina, hypoplastic mandibular condyles with slender condylar necks and unique ultrastructural hair findings. Body hair was absent. The hair in the area of a congenital melanocytic nevus had a greater number of hair cuticles than normal. Occipital hair had abnormal hair follicles and cuticles. The scale edges of the hair cuticles were detached and rolled up. Hypoplastic mandibular condyles with slender condylar necks, double mental foramina and the rolled up edges of hair cuticles have not been reported in patients with TRPS1.
ISSN: 13468138
Appears in Collections:CMUL: Journal Articles

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