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Autor:
Martin Hrabé de Angelis, Helmut Fuchs, Jenny Li-Ying Huang, Mugdha Deo, Catherine D. Van Raamsdonk
Publikováno v:
J. Invest. Dermatol. 133, 49-58 (2013)
Mutations in neurofibromin (NF1) cause the dominant genetic disorder neurofibromatosis type 1. Neurofibromatosis is characterized by Schwann cell-based tumors and skin hyperpigmentation, resulting from both haploinsufficiency and loss of heterozygosi