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

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 was dev...

Descripción completa

Detalles Bibliográficos
Autores principales: Schönfeld, Mascha, Selig, Mareike, Russo, Alexandra, Lindner, Christine, Kampmann, Christoph, Mildenberger, Eva, Whybra, Catharina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216795/
https://www.ncbi.nlm.nih.gov/pubmed/32144894
http://dx.doi.org/10.1002/mgg3.1174

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216795/
https://www.ncbi.nlm.nih.gov/pubmed/32144894
http://dx.doi.org/10.1002/mgg3.1174

Ejemplares similares