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Article

Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism.

Human mutation - 1 Jul 2020

Kluwe Lan, Friedrich Reinhard E, Farschtschi Said C, Hagel Christian, Kehrer-Sawatzki Hildegard, Mautner Victor-Felix

Abstract excerpt

We coincidently detected an atypical deletion of at least 1.3-Mb, encompassing the NF1 tumor suppressor gene and several adjacent genes at an apparent heterozygous level in the blood of a 65-year-old female patient. She had multiple subcutaneous tumors that appeared with a certain similarity of subcutaneous neurofibromas, which, however, was revealed as lipomas by histological examination. Comprehensive and...

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PMID: 32248581
DOI: 10.1002/humu.24022

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