- A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate
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Yamazaki K, Yoshino Y, Mori Y, Ochi S, Yoshida T, Ishimaru T, Ueno SI
- KMID: 2171038
- Clin Psychopharmacol Neurosci.
- 2015 Dec;13(3):324-326.
- doi: 10.9758/cpn.2015.13.3.324
Nasu-Hakola disease (NHD) is a rare autosomal recessive neuropsychiatric disorder characterized by bone cysts, fractures, and cognitive impairment. Two genes are responsible for the development of NHD; TYROBP and TREM2.... -
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