☆ 4.6 Article

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

HUMAN GENETICS (2020)

Rate this paper

The primary rating indicates the level of overall quality for the paper. Secondary ratings independently reflect strengths or weaknesses of the paper.

Discover Peeref hubs

Discuss science. Find collaborators. Network.

Join a conversation

Become a Peeref-certified reviewer

The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.

Get Started

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Rate this paper

Discover Peeref hubs

Become a Peeref-certified reviewer

Export Citation

Share Paper