Cited by

• An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.

  Zepeda-Mendoza CJ, Cousin MA, Basu S, Jenkinson G, Oliver G, Pittock ST, Baughn LB, Klee EW, Babovic-Vuksanovic D. Zepeda-Mendoza CJ, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004655. doi: 10.1101/mcs.a004655. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31662300 Free PMC article.
• A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.

  Smaili W, Elalaoui SC, Meier S, Zerkaoui M, Sefiani A, Heinimann K. Smaili W, et al. BMC Med Genet. 2017 May 3;18(1):50. doi: 10.1186/s12881-017-0413-8. BMC Med Genet. 2017. PMID: 28468609 Free PMC article.
• Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report.

  García-García SC, Herz-Ruelas ME, Gomez-Flores M, Vázquez-Herrera NE, Misciali C, Tosti A, Chavez-Alvarez S, Ocampo-Candiani J, Villarreal-Martinez A. García-García SC, et al. Skin Appendage Disord. 2020 Jun;6(3):162-167. doi: 10.1159/000506524. Epub 2020 Mar 13. Skin Appendage Disord. 2020. PMID: 32656236 Free PMC article.
• Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

  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. Lüdecke HJ, et al. Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112658 Free PMC article.
• Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.

  Su W, Shi X, Lin M, Huang C, Wang L, Song H, Zhuang Y, Zhang H, Li N, Li X. Su W, et al. BMC Med Genet. 2018 Dec 12;19(1):211. doi: 10.1186/s12881-018-0732-4. BMC Med Genet. 2018. PMID: 30541476 Free PMC article.