Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome

Author:

Huang SidaORCID,Song Jian,He Chufeng,Cai Xinzhang,Yuan KaiORCID,Mei LingyunORCID,Feng YongORCID

Funder

National Science Foundation of China | Young Scientists Fund

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Molecular Medicine

Reference197 articles.

1. Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 1951;3:195–253.

2. Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol. 2003;112:817–20.

3. Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK. Waardenburg syndrome. Int J Dermatol 1999;38:656–63.

4. Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat 2010;31:391–406.

5. Zaman A, Capper R, Baddoo W. Waardenburg syndrome: more common than you think! Clinical otolaryngology: official journal of ENT-UK; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial. Surgery. 2015;40:44–8.

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