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Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing
Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in PTPN11. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would...
Kaydedildi:
| Yayımlandı: | Clin Case Rep |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BlackWell Publishing Ltd
2015
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4405308/ https://ncbi.nlm.nih.gov/pubmed/25914815 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.205 |
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