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References

These sources were used to develop the Genetics Home Reference gene summary on the TRPS1 gene.

Entrez Gene
Hilton MJ, Sawyer JM, Gutiérrez L, Hogart A, Kung TC, Wells DE. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J Hum Genet. 2002;47(3):103-6. PubMed citation
Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet. 2001 Jan;68(1):81-91. Epub 2000 Dec 7. PubMed citation
Lüdecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. Hum Genet. 1999 Dec;105(6):619-28. PubMed citation
Lüdecke HJ, Wagner MJ, Nardmann J, La Pillo B, Parrish JE, Willems PJ, Haan EA, Frydman M, Hamers GJ, Wells DE, et al. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Hum Mol Genet. 1995 Jan;4(1):31-6. PubMed citation
Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet. 2000 Jan;24(1):71-4. PubMed citation
OMIM: ZINC FINGER TRANSCRIPTION FACTOR TRPS1
Shanske AL, Patel A, Saukam S, Levy B, Lüdecke HJ. Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). Am J Med Genet A. 2008 Dec 15;146A(24):3211-6. doi: 10.1002/ajmg.a.32615. PubMed citation
Tariq M, Ahmad S, Ahmad W. A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III. Br J Dermatol. 2008 Aug;159(2):476-8. doi: 10.1111/j.1365-2133.2008.08658.x. Epub 2008 Jun 9. PubMed citation


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