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TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
dc.contributor.authorKantaputra, Piranit
dc.contributor.authorJotikasthira, Dhirawat
dc.contributor.authorCarlson, Bruce
dc.contributor.authorWongmaneerung, Teerapat
dc.contributor.authorQuarto, Natalina
dc.contributor.authorKhankasikum, Theerapong
dc.contributor.authorPowcharoen, Warit
dc.contributor.authorIntachai, Worrachet
dc.contributor.authorTripuwabhrut, Kanich
dc.date.accessioned2020-07-02T20:33:21Z
dc.date.availableWITHHELD_13_MONTHS
dc.date.available2020-07-02T20:33:21Z
dc.date.issued2020-07
dc.identifier.citationKantaputra, Piranit; Jotikasthira, Dhirawat; Carlson, Bruce; Wongmaneerung, Teerapat; Quarto, Natalina; Khankasikum, Theerapong; Powcharoen, Warit; Intachai, Worrachet; Tripuwabhrut, Kanich (2020). "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 47(7): 774-778.
dc.identifier.issn0385-2407
dc.identifier.issn1346-8138
dc.identifier.urihttps://hdl.handle.net/2027.42/155929
dc.description.abstractTrichorhinophalangeal 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.
dc.publisherWiley Periodicals, Inc.
dc.subject.othertrichorhinophalangeal syndrome type 1
dc.subject.otherdouble mental foramina
dc.subject.otherabnormal hair cuticle
dc.subject.otherabnormal temporomandibular joint
dc.subject.othersupernumerary teeth
dc.titleTRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelDermatology
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/155929/1/jde15360.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/155929/2/jde15360_am.pdf
dc.identifier.doi10.1111/1346-8138.15360
dc.identifier.sourceThe Journal of Dermatology
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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