Waardenburg綜合征一家系二例_Chinese Journal of Ocular Fundus Diseases

Authors：

 顧虹

寧波市醫療中心李惠利醫院眼科中心 315040;

Corresponding?author：

顧虹, Email: guhong_1984@126.com

Keywords：

Waardenburg綜合征; 病例報告

DOI：

10.3760/cma.j.cn511434-20191018-00335

Video：

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Citation： 顧虹. Waardenburg綜合征一家系二例. Chinese Journal of Ocular Fundus Diseases, 2020, 36(12): 971-972. doi: 10.3760/cma.j.cn511434-20191018-00335 Copy

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.

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.

Chinese Journal of Ocular Fundus Diseases

Waardenburg綜合征一家系二例

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