EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome

Author:

Li Chuan,Chen Rongyu,Fan Xin,Luo Jingsi,Qian Jiale,Wang Jin,Xie Bobo,Shen Yiping,Chen Shaoke

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. Arias S, Mota M. Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum. J Genet Hum. 1978;26(2):103–31.

2. Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher Jr JH, Beighton P, et al. Waardenburg syndrome (WS) type I 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(5):902–13.

3. 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(4):391–406.

4. Tassabehji M, Newton VE, Leverton K, Turnbull K, Seemanova E, Kunze J, et al. PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. Hum Mol Genet. 1994;3(7):1069–74.

5. Pasteris NG, Trask BJ, Sheldon S, Gorski JL. Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35. Hum Mol Genet. 1993;2(7):953–9.

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