The article provides information on the etiology and pathogenesis of phacomatoses, presents the classification, clinic and features of the course of their various forms. Details are given about such forms as NF1 (Recklinghausen neurofibromatosis) and NF2 (schwannomatosis). Due to the fact that somatic mosaicism somewhat complicates the work of molecular genetic diagnostics (MGD), the tissue allocated for testing should be selected correctly and laboratory methods with high sensitivity should be used.
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Shiraliyeva et al. (2023) studied this question.
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