These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
10. A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Williams CJ; Ganguly A; Considine E; McCarron S; Prockop DJ; Walsh-Vockley C; Michels VV Am J Med Genet; 1996 Jun; 63(3):461-7. PubMed ID: 8737653 [TBL] [Abstract][Full Text] [Related]
11. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy). Körkkö J; Ritvaniemi P; Haataja L; Kääriäinen H; Kivirikko KI; Prockop DJ; Ala-Kokko L Am J Hum Genet; 1993 Jul; 53(1):55-61. PubMed ID: 8317498 [TBL] [Abstract][Full Text] [Related]
13. Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence. Wenger TL; Perkins J; Parish-Morris J; Hing AV; Chen ML; Cielo CM; Li D; Bhoj EJ; Hakonarson H; Zackai E; McDonald-McGinn DM; Taylor JA; Jackson O; Sie K; Bly R; Dahl J; Evans KN Am J Med Genet A; 2021 Dec; 185(12):3694-3700. PubMed ID: 34291880 [TBL] [Abstract][Full Text] [Related]
14. [Association of macular coloboma and Pierre Robin sequence; could it be Stickler syndrome?]. Hamma A; Bousalah M J Fr Ophtalmol; 2018 Mar; 41(3):e123-e124. PubMed ID: 29588057 [No Abstract] [Full Text] [Related]
15. Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome. Soulier M; Sigaudy S; Chau C; Philip N Prenat Diagn; 2002 Jul; 22(7):567-8. PubMed ID: 12124689 [TBL] [Abstract][Full Text] [Related]
16. Retinal detachment in identical twins with Stickler syndrome type 1. Watanabe Y; Ueda M; Adachi-Usami E Br J Ophthalmol; 1996 Nov; 80(11):976-81. PubMed ID: 8976725 [TBL] [Abstract][Full Text] [Related]