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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/10.17863/cam.79347

Publication URI: https://www.repository.cam.ac.uk/handle/1810/331897

Type: Journal Article/Review