Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia

Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia

Abstract Background Nonimmune hydrops fetalis (NIHF) is still a challenging diagnosis. The differential diagnosis is extensive and the success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. For the early diagnosis of NIHF, a virtual gene panel diagnostic tool...

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Bibliographic Details
Main Authors: Mascha Schönfeld, Mareike Selig, Alexandra Russo, Christine Lindner, Christoph Kampmann, Eva Mildenberger, Catharina Whybra
Format: Article
Language:English
Published: Wiley 2020-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
hydrops panel
next‐generation sequencing
nonimmune hydrops fetalis
Noonan syndrome
rare variant
Online Access:https://doi.org/10.1002/mgg3.1174

Internet

https://doi.org/10.1002/mgg3.1174

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