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Article

Genetic and clinical considerations in six cases with neurofibromatosis type 1.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie - 1 Jan 2007

Buteică Elena, Stoicescu Irina, Burada F, Stănoiu B

Abstract excerpt

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder, caused by mutations in the NF1 gene. The NF1 gene encoding neurofibromin protein, which is strongly expressed in the nervous system and with the role as a negative regular of the ras proteins signal. All six cases with neurofibromatosis type 1 were clinical and laboratory investigated. The frequently symptoms are "café au lait" spots and...

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PMID: 17914490

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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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