Stickler Syndrome.
Mortier G.
2000 Jun 9 [updated 2023 Sep 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Dominant Stickler Syndrome.
Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP.
Genes (Basel). 2022 Jun 18;13(6):1089. doi: 10.3390/genes13061089.
Autosomal Recessive Stickler Syndrome.
Nixon TRW, Richards AJ, Martin H, Alexander P, Snead MP.
Genes (Basel). 2022 Jun 24;13(7):1135. doi: 10.3390/genes13071135.
Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
Boothe M, Morris R, Robin N.
J Pers Med. 2020 Aug 27;10(3):105. doi: 10.3390/jpm10030105.
Stickler syndrome: exploring prophylaxis for retinal detachment.
Coussa RG, Sears J, Traboulsi EI.
Curr Opin Ophthalmol. 2019 Sep;30(5):306-313. doi: 10.1097/ICU.0000000000000599.
Hearing Loss in Stickler Syndrome: An Update.
Acke FRE, De Leenheer EMR.
Genes (Basel). 2022 Sep 1;13(9):1571. doi: 10.3390/genes13091571.
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR.
Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24.
Stickler syndrome in children: a radiological review.
McArthur N, Rehm A, Shenker N, Richards AJ, McNinch AM, Poulson AV, Tanner J, Snead MP, Bearcroft PWP.
Clin Radiol. 2018 Jul;73(7):678.e13-678.e18. doi: 10.1016/j.crad.2018.03.004. Epub 2018 Apr 13.
Prevention of Blindness in Stickler Syndrome.
Alexander P, Snead MP.
Genes (Basel). 2022 Jun 26;13(7):1150. doi: 10.3390/genes13071150.
Stickler syndrome.
Rishi P, Maheshwari A, Rishi E.
Indian J Ophthalmol. 2015 Jul;63(7):614-5. doi: 10.4103/0301-4738.167114.
