机译:A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
BGI Shenzhen, Shenzhen, Peoples R China;
Univ Melbourne, Dept Pediat, Melbourne, Vic, Australia;
Natl Inst Biotechnol & Genet Engn NIBGE C, Faisalabad, PakistanAnn & Robert H Lurie Childrens Hosp Chicago, Stanley Manne Childrens Res Inst, Chicago, IL USAUniv Sao Paulo, Dept Vet Med, Fac Anim Sci & Food Engn, Pirassununga, SP, BrazilSorbonne Univ, Pitie Salpetriere Hosp, Dept Endocrinol & Reprod Med, Ctr Rare Endocrine & Gynecol;