Funder
Key Research and Development Project of Hainan Province
Natural Science Foundation of Hainan Province
National Natural Science Foundation of China National Major Research Instrument Development Project
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Reference16 articles.
1. Read AP, Newton VE. Waardenburg syndrome. J Med Genet. 1997;34:656–65.
2. 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.
3. Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher HJ Jr, Beighton P, et al. Waardenburg syndrome (WS) type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet. 1992;50:902–13.
4. Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M, et al. The mutational spectrum in Waardenburg syndrome. Hum Mol Genet. 1995;4:2131–7.
5. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff. https://www.hgmd.cf.ac.uk/ac/all.php. Accessed 2 Sep 2022.