ArticleFrontiers in genetics2026
Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Isolated lissencephaly sequence (ILS) is a severe neurodevelopmental disorder associated with 17p13.3 microdeletion. This 6-year longitudinal study aimed to systematically characterize physical and neurodevelopmental trajectories of a Chinese ILS patient and offer evidence for early diagnosis and clinical intervention. Methods: From April 2021 to April 2026, a child with severe developmental delay and his family members (parents and elder brother) were recruited in Lianyungang, eastern China. Trio whole-exome sequencing (trio-WES) and copy number variation sequencing (CNV-seq) were used to identify the pathogenic variant. Serial physical growth and neurodevelopmental assessments were conducted during the 6-year longitudinal follow-up. Bioinformatics analysis was used to explore potential molecular pathogenic mechanisms. Results: A Conclusion: This study reports a 6-year longitudinal follow-up of ILS in a Chinese patient.
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