tricho-rhino-phalangeal syndrome type 1

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tricho-rhino-phalangeal syndrome type 1

An autosomal dominant condition (OMIM:190350), which is allelic with TRPS type 3, characterised by:
• Craniofacial defects—sparse scalp hair, a bulbous tip nose, protruding ears, a long flat philtrum and thin upper vermilion border; and
• Skeletal defects—cone-shaped epiphyses at phalanges, hip malformations and short stature.

Molecular pathology
Defects of TRPS1, which encodes a transcription factor that downregulates GATA-regulated genes, cause tricho-rhino-phalangeal syndrome type 1.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
DN: TrP MT: 11 point 2014 n = 47 n = 47 numeric pain 8/10 rating scale (0=no pain,10=max pain) 6.
The family history appeared to be negative, his parents and his sister do not manifest the syndrome phenotype, and in such conditions, a sporadic case of TRPS type I was considered highly possible.
Since 1951 great improvements have been made; volunteer members of the TRPS now provide most of the train crew and station staff required to operate the line, and assist with maintenance work and with many other activities.
Surely that would have generated the maximum TRPs, more than Goa's floating casinos!
La prima sezione, composta da 5 capitoli, comprende topic importanti sulla comprensione e la neurofisiologia del fenomeno TrP In particolare il primo capitolo si sofferma sulla neurofisiologia del dolore miofasciale, del dolore riferito e dei TrPs; all'interno del capitolo viene anche affrontata la patofisiologia dei TrPs.
The acquired business will complement TRPS, enhancing its pricing abilities for structured notes, interest-rate, equity, credit, commodities and FX derivatives as well as hybrid products,A the buyerA said.
Writing in the newsletter of the TRPS, veteran transport journalist Richard Hope describes how Mr Dawson became a principal civil servant in the Ministry of Transport in the 1960s, when many lines closed in the wake of Richard Beeching's modernisation report.
This method for the calculation of TRPs is based on the condition that the UWB feed radiates pulses in certain spatial directions with different time-delay and amplitude attenuation, but without serious distortion.
Our aim was to evaluate the effects of an 8-week water physical therapy program on cervical and shoulder pain, pressure sensitivity, and the presence of trigger points (TrPs) in breast cancer survivors
It will start once Kaun Banega Crorepati 5 (KBC) goes off air and Aruna says there is a big responsibility to match up with the TRPs and craze for Amitabh Bachchan.
The Talyllyn Railway Preservation Society (TRPS) was formed as a result of a flood of responses to that advert, and in May 1951 it became managed and run entirely by volunteers.