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

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

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...

Full description

Bibliographic Details
Main Authors: Yuemei Liu, Hongling Wang, Yu Tang, Lei Zhang, Yanyan Su, Yanqion Wang, Shasha Xu, Shiyue Mei, Chunyang Jia, Yuelin Shen, Xiaolei Tang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-09-01
Series:Frontiers in Pediatrics
Subjects:
NHLRC2
interstitial lung disease
lung fibrosis
neurodegeneration
genetics
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1402545/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2024.1402545/full

Similar Items