Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects

• Egile Nagusiak: Yonglin Yu (Egilea), Hongwei Yin (Egilea), Changli Ma (Egilea), Xiaoyi Jia (Egilea), Wencong Chen (Egilea), Haifeng Li (Egilea), Ke Wu (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2022-10-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

BackgroundPathogenic variants in the FIG4 gene have been described to be associated with a diverse spectrum of syndromes, such as autosomal recessive bilateral temporooccipital polymicrogyria (OMIM 612691), autosomal dominant amyotrophic lateral sclerosis-11 (ALS11; OMIM 612577), autosomal recessive...