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Article

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.

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

Al-Rahawan Mohamad M, Chute Deborah J, Sol-Church Katia, Gripp Karen W, Stabley Deborah L, McDaniel Nancy L, Wilson William G, Waldron Peter E

Abstract excerpt

Cardio-facio-cutaneous syndrome (CFC) and Costello syndrome (CS) are disorders with an overlapping spectrum of congenital anomalies. Mutations in the RAS-MAPK pathway have recently been reported in both of these syndromes, with HRAS mutations characteristic for CS and BRAF and MEK1/2 mutations fo...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17567882
DOI: 10.1002/ajmg.a.31819

Genes

BRAF
HRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17567882-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Click a neighbor to travelStep 1 · 12 closest

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.PMID 17567882Read ↗

Costello syndrome and related disorders.Semantic proximity Read ↗

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.Semantic proximity Read ↗

Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogeneSemantic proximity Read ↗

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.Semantic proximity Read ↗

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.Semantic proximity Read ↗

LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.Semantic proximity Read ↗

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.Semantic proximity Read ↗

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.Semantic proximity Read ↗

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndromeSemantic proximity Read ↗

New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.Semantic proximity Read ↗

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.Semantic proximity Read ↗

Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.Semantic proximity Read ↗

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