Identification of two new mutations inTRPS 1gene leading to the tricho-rhino-phalangeal syndrome type I and III
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32952/fullpdf
Reference17 articles.
1. The role of the Ikaros gene in lymphocite development and homeostasia;Georgopoulos;Ann Rev Immunol,1997
2. A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I;Hatamura;Clin Genet,2001
3. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes;Hilton;J Hum Genet,2002
4. Trps1 plays a pivotal role downstream of Gdf5 signaling in promoting chondrogenesis and apoptosis of ATDC5 cells;Itoh;Genes Cells,2008
5. Nuclear interaction of the dynein light chain LC8 with the TRPS1 transcription factor suppress the transcriptional repression activity of TRPS 1;Kaiser;Hum Mol Genet,2003
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2. TRPS1 drives heterochromatic origin refiring and cancer genome evolution;Cell Reports;2021-03
3. Whole-exome sequencing in Tricho-rhino-phalangeal syndrome (TRPS) type I in a Korean family;Genes & Genomics;2016-12-28
4. Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3–q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1;Taiwanese Journal of Obstetrics and Gynecology;2015-10
5. An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4;Molecular Cytogenetics;2015-08-12
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