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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Detalles Bibliográficos
Autores principales: Coromilas, Alexandra, Wynn, Julia, Haverfield, Eden, Chung, Wendy K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405308/
https://www.ncbi.nlm.nih.gov/pubmed/25914815
http://dx.doi.org/10.1002/ccr3.205

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405308/
https://www.ncbi.nlm.nih.gov/pubmed/25914815
http://dx.doi.org/10.1002/ccr3.205

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