Article

Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54

2023-04-24

Abstract excerpt

<title>Abstract</title> <p>Biallelic hypomorphic variants in <italic>PRORP</italic> have been recently described as causing the autosomal recessive disorder combined oxidative phosphorylation deficiency type 54 (COXPD54). COXPD54 encompasses a phenotypic spectrum of sensorineural hearing loss and ovarian insufficiency (Perrault syndrome) to leukodystrophy. Here, we report three additional families with homozygous...

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Literature Corpus work: 15f2dd81-47bc-55e7-8bad-5ada74daaf48
DOI: 10.21203/rs.3.rs-2844536/v1

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