Article
TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology.
The Journal of dermatology - 1 Jul 2020
Nik Kantaputra Piranit, Jotikasthira Dhirawat, Carlson Bruce, Wongmaneerung Teerapat, Quarto Natalina, Khankasikum Theerapong, Powcharoen Warit, Intachai Worrachet, Tripuwabhrut Kanich
Abstract excerpt
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....
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