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Article

Noonan syndrome: prenatal diagnosis in a woman carrying a PTPN11 gene mutation.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 Jul 2010

González-Huerta Norma Celia, Valdés-Miranda Juan Manuel, Pérez-Cabrera Adrián, Pacheco-Cuellar Guillermo, González-Huerta Luz Maria, Cuevas-Covarrubias Sergio Alberto

Abstract excerpt

OBJECTIVE: To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene. STUDY DESIGN: Case report. RESULTS: We detected in a pregnant woman and her child the G<A transition at position 23...

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Source

Identifiers

PMID: 20064076
DOI: 10.3109/14767050903440455

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20064076-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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