Low disease risk and penetrance in Leber hereditary optic neuropathy

Watson, EC; Davis, RL; Ravishankar, S; Copty, J; Kummerfeld, S; Sue, CM

Sue, CM (通讯作者)，Univ Sydney, Kolling Inst, Fac Med & Hlth, Dept Neurogenet, Reserve Rd, St Leonards, NSW, Australia.;Sue, CM (通讯作者)，Northern Sydney Local Hlth Dist, Reserve Rd, St Leonards, NSW, Australia.;Sue, CM (通讯作者)，Royal North Shore Hosp, Dept Neurol, Northern Sydney Local Hlth Dist, St Leonards, NSW, Australia.

AMERICAN JOURNAL OF HUMAN GENETICS, 2023; 110 (1): 166

Abstract

The risk of Leber hereditary optic neuropathy (LHON) has largely been extrapolated from disease cohorts, which underestimate the pop-ulation prevalenc......

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