Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1

• Main Authors: Lisha Yang (Author), Jiewen Fu (Author), Jingliang Cheng (Author), Baixu Zhou (Author), Maomei Chen (Author), Songyot Anuchapreeda (Author), Junjiang Fu (Author)
• Format: Book
• Published: BMC, 2023-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Neurofibromatosis type 1 (NF1) presents an autosomal dominant, haploinsufficient, and multisystemic disorder with patches of skin café-au-lait spots, lisch nodules in the iris, even tumors in the peripheral nervous system or fibromatous skin. In this study, a Chinese young woman who suffer...