Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

Alesi, V; Lepri, FR; Dentici, ML; Genovese, S; Sallicandro, E; Bejo, K; Dallapiccola, B; Capolino, R; Novelli, A; Digilio, MC

Alesi, V (通讯作者),Bambino Gesu Children Hosp, IRCCS, Translat Cytogen Res Unit, Lab Med Genet, Rome, Italy.

EUROPEAN JOURNAL OF HUMAN GENETICS, 2022; 30 (11): 1239

Abstract

Neurofibromatosis type 1 (NF1), an autosomal dominant disorder characterized by skin pigmentary lesions and multiple cutaneous neurofibromas, is cause......

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