Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome. (2024)

First Author: Faridi R
Attributed to:  Pleiotropic disorders of mitochondrial translation funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1111/cge.14514

PubMed Identifier: 38454547

Publication URI: http://europepmc.org/abstract/MED/38454547

Type: Journal Article/Review

Parent Publication: Clinical genetics

ISSN: 0009-9163