Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Antti Tallgren,Leo Kager, Gina O'Grady,Hannu Tuominen,Jarmo Körkkö,Outi Kuismin,Martha Feucht,Callum Wilson,Jana Behunova,Eleina England,Mitja I Kurki,Aarno Palotie,Mikko Hallman,Riitta Kaarteenaho,Franco Laccone,Kaan Boztug,Reetta Hinttala,Johanna Uusimaa

Frontiers in neuroscience（2023）

引用 0|浏览6

暂无评分

摘要

This report expands on the characteristic clinical features of FINCA disease. Presentation is typically in infancy, and although patients can live to late adulthood, the key clinical and histopathological features are fibrosis, infection susceptibility/immunodeficiency/intellectual disability, neurodevelopmental disorder/neurodegeneration and chronic anemia/cerebral angiomatosis (hence the acronym FINCA) that enable an early diagnosis confirmed by genetic investigations.

查看译文

关键词

NHLRC2, whole exome sequencing, FINCA disease, neurodevelopmental disorder, macrocytic anemia

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要