1. |
Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome[J]. Ann Otol Rhinol Laryngol, 2003, 112(9): 817-820. DOI: 10.1177/000348940311200913.
|
2. |
Pingault V, Ente D, Dastot-Le Moal F, et al. Review and update of mutations causing Waardenburg syndrome[J]. Hum Mutat, 2010, 31(4): 391-406. DOI: 10.1002/humu.21211.
|
3. |
Nobukuni Y, Watanabe A, Takeda K, et al. Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A[J]. Am J Hum Genet, 1996, 59(1): 76-83.
|
4. |
Lalwani AK, Attale A, Randolph FT, et al. Point mutation in the MITF gene causing Waardenburg syndrome type Ⅱ in a three-generation Indian family[J]. Am J Med Genet, 1998, 80(4): 406-409.
|
5. |
Tsang SH, Sharma T. Retinitis pigmentosa (non-syndromic)[J]. Adv Exp Med Biol, 2018, 1085: 125-130. DOI: 10.1007/978-3-319-95046-4_25.
|
6. |
Yokoyama A, Marulwa F, Hayakawa M, et al. Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa[J]. Am J Med Genet, 2001, 104(3): 232-238. DOI: 10.1002/ajmg.10035.
|
7. |
Talib M, van Schooneveld MJ, van Cauwenbergh C, et al. The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene[J]. Invest Ophthalmol Vis Sci, 2018, 59(10): 4123-4133. DOI: 10.1167/iovs.17-23453.
|