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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...
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| Publicado no: | Clin Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BlackWell Publishing Ltd
2015
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| Assuntos: | |
| Acesso em linha: | 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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