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Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. (2021)

First Author: Bardhan M

Attributed to: Exosomal protein deficiencies: how abnormal RNA metabolism results in childhood-onset neurological diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1038/s10038-021-00913-1

PubMed Identifier: 33712684

Publication URI: http://europepmc.org/abstract/MED/33712684

Type: Journal Article/Review

Volume: 66

Parent Publication: Journal of human genetics

Issue: 8

ISSN: 1434-5161