Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement. (2022)

First Author: Gangfuß A
Attributed to:  Targeting the cellular metabolism to treat tissue-specific mitochondrial diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1002/path.5812

PubMed Identifier: 34599609

Publication URI: http://europepmc.org/abstract/MED/34599609

Type: Journal Article/Review

Volume: 256

Parent Publication: The Journal of pathology

Issue: 1

ISSN: 0022-3417