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The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease

1 Mar 2022

Abstract excerpt

Neurofibromatosis type-1 (NF1) is a genodermatosis frequently encountered in general dermatology. In many patients, the diagnosis of NF1 is made clinically based on the presence of café-au-lait macules and skinfold freckling, as well as plexiform neurofibromas detectable during early childhood. Later in life, cutaneous neurofibromas often represent important diagnostic features. NF1 is characterized by extreme...

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PMID: 35246941
DOI: 10.1111/ddg.14707

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