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Article

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

American journal of medical genetics. Part A - 1 Aug 2006

Rauen Katherine A

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Topics

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Share to Abnormalities, Multiple
Share to Child
Share to Craniofacial Abnormalities
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Proto-Oncogene Proteins B-raf

Share to Skin Abnormalities

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Source

Identifiers

PMID: 16804887
DOI: 10.1002/ajmg.a.31315

Genes

BRAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.PMID 16804887Read ↗

Costello syndrome and related disorders.Semantic proximity Read ↗

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

The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.Semantic 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 ↗

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

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.Semantic proximity Read ↗

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

Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients.Semantic proximity Read ↗

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.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 ↗

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.Semantic proximity Read ↗

The cardiofaciocutaneous syndrome.Semantic proximity Read ↗

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