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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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書目詳細資料
發表在:Clin Case Rep
Main Authors: Coromilas, Alexandra, Wynn, Julia, Haverfield, Eden, Chung, Wendy K
格式: Artigo
語言:Inglês
出版: BlackWell Publishing Ltd 2015
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在線閱讀: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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