Article info
PDFGenotype-phenotype correlations
Original research
Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement
- Correspondence to Dr Hudson H Freeze, Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA; hudson{at}sbpdiscovery.org
Citation
Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement
Publication history
- Received July 19, 2022
- Accepted October 19, 2022
- First published November 10, 2022.
Online issue publication
June 21, 2023
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© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.