1. |
Stickler GB, Belau PG, Farrell FJ, et al. Hereditary progressive arthro-ophthalmopathy[J]. Mayo Clin Proc, 1965, 40: 433-455.
|
2. |
Temple IK. Stickler's syndrome[J]. J Med Genet, 1989, 26(2): 119-126. DOI: 10.1136/jmg.26.2.119.
|
3. |
Karempelis P, Hagen M, Morrell N, et al. Associated syndromes in patients with Pierre Robin Sequence[J/OL]. Int J Pediatr Otorhinolaryngol, 2020, 131: 109842[2019-12-30]. https://doi.org/10.1016/j.ijporl.2019.109842. DOI: 10.1016/j.ijporl.2019.109842.
|
4. |
Snead MP, Yates JR. Clinical and molecular genetics of Stickler syndrome[J]. J Med Genet, 1999, 36(5): 353-359. DOI: 10.1136/jmg.36.5.353.
|
5. |
Vintiner GM, Temple IK, Middleton-Price HR, et al. Genetic and clinical heterogeneity of Stickler syndrome[J]. Am J Med Genet, 1991, 41(1): 44-48. DOI: 10.1002/ajmg.1320410113.
|
6. |
Hoornaert KP, Vereecke I, Dewinter C, et al. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients[J]. Eur J Hum Genet, 2010, 18(8): 872-880. DOI: 10.1038/ejhg.2010.23.
|
7. |
Bath F, Swanson D, Zavala H, et al. Hearing outcomes in Stickler syndrome: variation due to COL2A1 and COL11A1[J]. Cleft Palate Craniofac J, 2022, 59(8): 970-975. DOI: 10.1177/105566 56211029519.
|
8. |
Sirko-Osadsa DA, Murray MA, Scott JA, et al. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(Ⅺ) chain of type Ⅺ collagen[J]. J Pediatr, 1998, 132(2): 368-371. DOI: 10.1016/s0022-3476(98)70466-4.
|
9. |
Chan TK, Alkaabi MK, Elbarky AM, et al. LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome[J]. Clin Genet, 2019, 95(2): 325-328. DOI: 10.1111/cge.13465.
|
10. |
Hanson-Kahn A, Li B, Cohn DH, et al. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation[J]. Am J Med Genet A, 2018, 176(12): 2887-2891. DOI: 10.1002/ajmg.a.40647.
|
11. |
Fincham GS, Pasea L, Carroll C, et al. Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol[J]. Ophthalmology, 2014, 121(8): 1588-1597. DOI: 10.1016/j.ophtha.2014.02.022.
|
12. |
Naravane AV, Belin PJ, Pierce B, et al. Risk and prevention of retinal detachments in patients with Stickler syndrome[J]. Ophthalmic Surg Lasers Imaging Retina, 2022, 53(1): 7-11. DOI: 10.3928/23258160-20211213-02.
|