Case Report: New genetic variant and widely different phenotypes observed in twins with Vanishing White Matter disease
IntroductionVanishing White Matter disease (VWM) is a rare neurological disease, with an autosomal recessive inheritance. In this case report, we describe two four-year-old dizygotic twin brothers diagnosed with VWM with the same genotype and different phenotypes. We also describe a new likely patho...
| Published in: | Frontiers in Pediatrics |
|---|---|
| Main Authors: | Ellis Oron-Lexner, Bjørk Ditlev Larsen, Maria Therese Schelde-Olesen |
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-08-01
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| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1643040/full |
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