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Article

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

European journal of human genetics : EJHG - 1 Jan 2003

Kavamura M I, Pomponi M G, Zollino M, Lecce R, Murdolo M, Brunoni D, Alchorne M M A, Opitz J M, Neri G

Abstract excerpt

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation. It was described in 1986, and to date is of unknown genetic etiology. All reported cases are sporadic, born to non-consanguineous parents and have apparently normal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 12

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Source

Identifiers

PMID: 12529707
DOI: 10.1038/sj.ejhg.5200911

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.PMID 12529707Read ↗

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

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