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Novel CASK mutations in cases with syndromic microcephaly
Mutations in CASK cause a wide spectrum of phenotypes in humans ranging from mild X-linked intellectual disability to a severe microcephaly (MC) and pontocerebellar hypoplasia syndrome. Nevertheless, predicting pathogenicity and phenotypic consequences of novel CASK mutations through the exclusive c...
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| Yayımlandı: | Hum Mutat |
|---|---|
| Asıl Yazarlar: | , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5995665/ https://ncbi.nlm.nih.gov/pubmed/29691940 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23536 |
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