Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.
Ahmed ZM, Jaworek TJ, Sarangdhar GN, Zheng L, Gul K, Khan SN, Friedman TB, Sisk RA, Bartles JR, Riazuddin S, Riazuddin S.
Ahmed ZM, et al. Among authors: bartles jr.
J Med Genet. 2018 Jul;55(7):479-488. doi: 10.1136/jmedgenet-2017-105221. Epub 2018 Mar 23.
J Med Genet. 2018.
PMID: 29572253
Free PMC article.