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Article

The perinatal presentation of cardiofaciocutaneous syndrome.

American journal of medical genetics. Part A - 1 Aug 2014

Wong Ramsey Kara N, Loichinger Matthew H, Slavin Thomas P, Kuo Sheree, Seaver Laurie H

Abstract excerpt

There is limited information available related to the perinatal course of cardiofaciocutaneous syndrome (CFC) compared to other syndromes within the Ras-MAP kinase pathway (rasopathies) such as Noonan and Costello syndrome. Retrospective chart review revealed four cases of CFC with molecular confirmation between 2005 and 2012 at Hawaii's largest obstetric and pediatric referral center. We report on details of the...

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Source

Identifiers

PMID: 24719372
DOI: 10.1002/ajmg.a.36558

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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The perinatal presentation of cardiofaciocutaneous syndrome.PMID 24719372Read ↗

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RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature.Semantic proximity Read ↗

The RASopathies: Biology, genetics and therapeutic options.Semantic proximity Read ↗

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Noonan syndrome – a new surveySemantic proximity Read ↗

Mutation and Phenotypic Spectrum of Patients With RASopathies.Semantic proximity Read ↗

Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.Semantic proximity Read ↗

Noonan syndrome: genetic and clinical update and treatment optionsSemantic proximity Read ↗

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