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Article

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

Molecular genetics & genomic medicine - 1 May 2020

Schönfeld Mascha, Selig Mareike, Russo Alexandra, Lindner Christine, Kampmann Christoph, Mildenberger Eva, Whybra Catharina

Abstract excerpt

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 developed. The female premature baby in question was delivered via emergency cesarean at 30 + 1 weeks of gestational...

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Identifiers

PMID: 32144894
DOI: 10.1002/mgg3.1174
PMCID: PMC7216795

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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