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Article

Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations.

American journal of medical genetics. Part A - 1 Jun 2007

Becker Kristin, Hughes Helen, Howard Karol, Armstrong Maggie, Roberts Devender, Lazda Edgar J, Short John P, Shaw Adam, Patton Michael A, Tartaglia Marco

Abstract excerpt

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Topics

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Share to Fetal Death
Share to Fetus
Share to Gestational Age
Share to Intracellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Noonan Syndrome

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to Protein Tyrosine Phosphatases

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 17497712
DOI: 10.1002/ajmg.a.31738

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations.PMID 17497712Read ↗

Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications.Semantic proximity Read ↗

A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrenceSemantic proximity Read ↗

Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype.Semantic proximity Read ↗

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

Placental defects are involved in most gene mutations that cause embryonic and fetal death.Semantic proximity Read ↗

Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.Semantic proximity Read ↗

The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants.Semantic proximity Read ↗

Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?Semantic proximity Read ↗

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.Semantic proximity Read ↗

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal deathSemantic proximity Read ↗

Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.Semantic proximity Read ↗

PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.Semantic proximity Read ↗

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