Trichorhinophalangeal Syndrome.
Tüysüz B, Güneş N, Alkaya DU.
2017 Apr 20 [updated 2024 Mar 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M.
Eur J Med Genet. 2024 Jun;69:104937. doi: 10.1016/j.ejmg.2024.104937. Epub 2024 Apr 2.
Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I.
de Barros GM, Kakehasi AM.
Rev Bras Reumatol Engl Ed. 2016 Jan-Feb;56(1):86-9. doi: 10.1016/j.rbre.2014.08.017. Epub 2015 Mar 9.
Tricho-rhino-phalangeal syndrome type I.
Eroğlu Y, Erçal D.
Turk J Pediatr. 1996 Oct-Dec;38(4):537-42.
Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?
Karaer K, Yüksel Z.
Genet Couns. 2014;25(1):13-7.
Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency.
Yagasaki H, Narusawa H, Watanabe D, Kobayashi K, Mitsui H, Asano Y, Nagata M, Yonei A, Inukai T.
Eur J Med Genet. 2023 Dec;66(12):104870. doi: 10.1016/j.ejmg.2023.104870. Epub 2023 Oct 23.
Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report.
Xu S, Lian Q, Wu J, Li L, Song J.
BMC Med Genet. 2020 Aug 3;21(1):158. doi: 10.1186/s12881-020-01096-w.
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.
BMC Med Genet. 2017 May 3;18(1):50. doi: 10.1186/s12881-017-0413-8.
Tricho-rhino-phalangeal syndrome type-1.
Madhulika, Suri M, Singh G.
Indian J Pediatr. 1993 Mar-Apr;60(2):315-6. doi: 10.1007/BF02822200.
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.
Mégarbané A, Mehawej C, Mahfoud D, Chouery E, Devriendt K, Hijazi M, Ryu SW, Kim J, McNeill A.
Eur J Med Genet. 2024 Jun;69:104944. doi: 10.1016/j.ejmg.2024.104944. Epub 2024 Apr 26.
