A rare homozygous mutation in TYROBP resulting in early-onset dementia with bone cysts.

Abstract excerpt

Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by progressive dementia and multiple bone cysts. The known pathogenic genes include TYRO protein tyrosine kinase binding protein (TYROBP) on chromosome 19q13.1 and triggering receptor expressed on myeloid cells 2 (TREM2) on chromosome 6p21.1. Until now, no case related to TYROBP gene mutation has been reported in the Chinese...

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