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Paper Details

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.
Hum Genet
16
2021
Arg232Cys, Mitochondrial disorders, POI, TFAM, c.694C, c.694C>T, fibroblasts, hearing loss, humans, in-frame c.141_149 deletion, intellectual disability, mitochondrial disease, mitochondrial transcription factor A, mtDNA, mtDNA depletion, ovarian dysgenesis, p.Arg232Cys, primary dermal fibroblasts, primary ovarian insufficiency, seizures, tfam, tfam mutants, zebrafish
Author NameAffiliation
Nicholas KatsanisStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago
Nicholas Katsanis
Nicholas KatsanisStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago
Nicholas Katsanis
Andrew H SinclairUniversity of Melbourne
Andrew H SinclairMurdochChildren's Research Institute, Royal Children's Hospital
Elena J TuckerUniversity of Melbourne
Elena J TuckerMurdochChildren's Research Institute, Royal Children's Hospital
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