Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7

Overview of attention for article published in Frontiers in Genetics, January 2022

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Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants

Article in Molecular Genetics & Genomic Medicine (August 2024)

Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills

Preprint in Research Square (June 2024)

Clinical characteristics and genetic analysis of a case with adult-onset neuronal ceroid lipofuscinosis type 7 due to variant of MFSD8 gene

Article in 中华医学遗传学杂志 (April 2023)

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