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A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia
Microlissencephaly is a brain malformation characterized by microcephaly and extremely simplified gyral pattern. It may be associated with corpus callosum agenesis and pontocerebellar hypoplasia. In this case report, we described two siblings, a boy and a girl, with this complex brain malformation a...
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| Udgivet i: | J Pediatr Genet |
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| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Georg Thieme Verlag KG
2021
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| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8110363/ https://ncbi.nlm.nih.gov/pubmed/33996189 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1712916 |
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