Ya-Li Zhao

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.