【摘 要】
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Neuronal ceroid lipofuscinoses (NCLs) comprise a group of rare genetic progressive neurodegenerative diseases which are autosomal recessively inherited.It is difficult to be diagnosed only depend on s
【机 构】
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Guangzhou Women and Children's Medical Center Department of Genetics and Endocrinology
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Neuronal ceroid lipofuscinoses (NCLs) comprise a group of rare genetic progressive neurodegenerative diseases which are autosomal recessively inherited.It is difficult to be diagnosed only depend on symptoms and brain MRI.Here we reported two Chinese siblings who were diagnosed as "Finnish-variant" of late-infantile neuronal ceroid lipofuscinoses by Whole-Genome sequencing.Two Chinese siblings were born by non-consanguineous parents.
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