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Article

C677T mutation in the MTHFR gene was not found in patients with frontoethmoidal encephalocele in East Java, Indonesia.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2004

Sadewa Ahmad Hamim, Sutomo Retno, Istiadjid Mohamad, Nishiyama Kaoru, Shirakawa Taku, Matsuo Masafumi, Nishio Hisahide

Abstract excerpt

BACKGROUND: Frontoethmoidal encephalocele (FEE) is a neural tube defect (NTD) characterized by a congenital bone defect in the anterior cranium and herniation of the intracranial mass through the defect. The C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) has been reported as a genetic risk factor for spina bifida. However, the role of the MTHFR in the pathogenesis of FEE remains to be...

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PMID: 15310304
DOI: 10.1111/j.1442-200x.2004.01927.x

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MTHFR

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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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