Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review

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Title:: Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review
Document type:: Zeitschriftenaufsatz
Author(s):: Lausmann, Hanna ; Zacharias, Martin ; Neuhann, Teresa M. ; Locher, Melanie K. ; Schettler, Karl F.
Keywords:: Genetics ; DPM1 ; DPM1-CDG ; CDG-Ie ; CDG ; congenital disorder of glycosylation ; epilepsy ; neuromuscular disorder ; neurodevelopment
Journal title:: Frontiers in Genetics
Year:: 2022
Journal volume:: 13
Fulltext / DOI:: doi:10.3389/fgene.2022.889829
Publisher:: Frontiers Media S.A.
E-ISSN:: 1664-8021
Date of publication:: 13.07.2022
CC license:: by, https://creativecommons.org/licenses/by/4.0

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