Open access
Sep 2026
Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study
The 6-year longitudinal follow-up of ILS in a Chinese patient with severe developmental delay confirmed that haploinsufficiency of the PAFAH1B1 gene was the primary pathogenic cause and expanded the phenotypic spectrum of ILS in Chinese populations.
Jiao Tong, Xu Chen, Tao Wang et al.
· Frontiers in Genetics · 0 citations