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- Document type:
- Zeitschriftenaufsatz
- Author(s):
- Lausmann, Hanna ; Zacharias, Martin ; Neuhann, Teresa M. ; Locher, Melanie K. ; Schettler, Karl F.
- Title:
- Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review
- 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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