TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
© 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 supernum...
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th-cmuir.6653943832-708172020-10-14T08:41:55Z TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology Piranit Nik Kantaputra Dhirawat Jotikasthira Bruce Carlson Teerapat Wongmaneerung Natalina Quarto Theerapong Khankasikum Warit Powcharoen Worrachet Intachai Kanich Tripuwabhrut Medicine © 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. 2020-10-14T08:41:55Z 2020-10-14T08:41:55Z 2020-07-01 Journal 13468138 03852407 2-s2.0-85084203421 10.1111/1346-8138.15360 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85084203421&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/70817 |
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Medicine Piranit Nik Kantaputra Dhirawat Jotikasthira Bruce Carlson Teerapat Wongmaneerung Natalina Quarto Theerapong Khankasikum Warit Powcharoen Worrachet Intachai Kanich Tripuwabhrut TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology |
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© 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. |
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Journal |
author |
Piranit Nik Kantaputra Dhirawat Jotikasthira Bruce Carlson Teerapat Wongmaneerung Natalina Quarto Theerapong Khankasikum Warit Powcharoen Worrachet Intachai Kanich Tripuwabhrut |
author_facet |
Piranit Nik Kantaputra Dhirawat Jotikasthira Bruce Carlson Teerapat Wongmaneerung Natalina Quarto Theerapong Khankasikum Warit Powcharoen Worrachet Intachai Kanich Tripuwabhrut |
author_sort |
Piranit Nik Kantaputra |
title |
TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology |
title_short |
TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology |
title_full |
TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology |
title_fullStr |
TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology |
title_full_unstemmed |
TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology |
title_sort |
trps1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology |
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2020 |
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https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85084203421&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/70817 |
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1681752971914772480 |