Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of NHLRC2

• Main Authors: Yuemei Liu (Author), Hongling Wang (Author), Yu Tang (Author), Lei Zhang (Author), Yanyan Su (Author), Yanqion Wang (Author), Shasha Xu (Author), Shiyue Mei (Author), Chunyang Jia (Author), Yuelin Shen (Author), Xiaolei Tang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome is an autosomal recessive genetic disorder caused by mutations in NHL-repeat-containing protein 2 (NHLRC2) gene. This case report describes two Chinese siblings with FINCA syndrome carrying a novel frameshift variant, c.1610dupT...