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Article

Cardio-facio-cutaneous syndrome with BRAF gene mutation: A case report and literature review.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Apr 2021

Chen Baiyu, Chen Shimeng, Xiong Juan, Yin Fei

Abstract excerpt

Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33967092
DOI: 10.11817/j.issn.1672-7347.2021.190756
PMCID: PMC10930301

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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