Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood
- PMID: 20635356
- DOI: 10.1002/ajmg.a.33511
Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood
Similar articles
-
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.Eur J Med Genet. 2011 Jul-Aug;54(4):e405-8. doi: 10.1016/j.ejmg.2011.04.001. Epub 2011 Apr 15. Eur J Med Genet. 2011. PMID: 21524721
-
Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.Am J Med Genet A. 2009 Aug;149A(8):1837-41. doi: 10.1002/ajmg.a.32952. Am J Med Genet A. 2009. PMID: 19610100 No abstract available.
-
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522
-
Making extra teeth: Lessons from a TRPS1 mutation.Am J Med Genet A. 2017 Jan;173(1):99-107. doi: 10.1002/ajmg.a.37967. Epub 2016 Oct 5. Am J Med Genet A. 2017. PMID: 27706911 Review.
-
[Langer-Giedion syndrome(tricho-rhino-phalangeal syndrome, type II; TRPS II)].Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):203-4. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057196 Review. Japanese. No abstract available.
Cited by
-
GATA3 and TRPS1 are distinct biomarkers and prognostic factors in breast cancer: database mining for GATA family members in malignancies.Oncotarget. 2017 May 23;8(21):34750-34761. doi: 10.18632/oncotarget.16160. Oncotarget. 2017. PMID: 28423734 Free PMC article.
-
Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass.PLoS One. 2011;6(11):e27325. doi: 10.1371/journal.pone.0027325. Epub 2011 Nov 7. PLoS One. 2011. PMID: 22087292 Free PMC article.
-
A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis.Ann Dermatol. 2022 Apr;34(2):139-143. doi: 10.5021/ad.2022.34.2.139. Epub 2022 Mar 24. Ann Dermatol. 2022. PMID: 35450306 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources