A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate

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. Although it presents with typical signs and symptoms, diagnosing this disease re...

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Detaylı Bibliyografya
Yayımlandı:Clin Psychopharmacol Neurosci
Asıl Yazarlar: Yamazaki, Kiyohiro, Yoshino, Yuta, Mori, Yoko, Ochi, Shinichiro, Yoshida, Taku, Ishimaru, Takashi, Ueno, Shu-ichi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Korean College of Neuropsychopharmacology 2015
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4662179/
https://ncbi.nlm.nih.gov/pubmed/26598595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.9758/cpn.2015.13.3.324
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