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Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1
The diagnosis of rare diseases with multisystem manifestations can constitute a difficult process that delays the determination of the underlying cause. Whole exome sequencing (WES) provides a suitable option to examine multiple target genes associated with several disorders that display common feat...
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| Yayımlandı: | J Pediatr Genet |
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| Asıl Yazarlar: | , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Georg Thieme Verlag KG
2021
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| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8110338/ https://ncbi.nlm.nih.gov/pubmed/33996185 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1710058 |
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