Litcius/Paper detail

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

Farid Ullah, Waqar Rauf, Kamal Khan, Sheraz Khan, Katrina M. Bell, Vanessa Cristina de Oliveira Souza, Muhammad Tariq, Shabnam Bakhshalizadeh, Philippe Touraine, Nicholas Katsanis, Andrew Sinclair, Sijie He, Elena J. Tucker, Shahid Mahmood Baig, Erica E. Davis

2021Human Genetics30 citationsDOI

Topics & Concepts

TFAMBiologyMitochondrial DNAGeneticsMitochondrial diseaseMitochondrionMitochondrial biogenesisPhenotypeCell biologyGeneMitochondrial Function and PathologyGenetic Neurodegenerative DiseasesDNA Repair Mechanisms
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss | Litcius