Deletion of the whole NF1 gene in a three-generation family with neurofibromatosis type 1.
Qin DuHongxi ChenHongyu ZhouPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)
Our findings are the first to identify whole NF1 deletion in a three-generation family with autosomal dominant NF1 and broaden the understanding of the genetic spectrum of NF1-associated NF1.