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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Detalles Bibliográficos
Autores principales: Yamazaki, Kiyohiro, Yoshino, Yuta, Mori, Yoko, Ochi, Shinichiro, Yoshida, Taku, Ishimaru, Takashi, Ueno, Shu-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean College of Neuropsychopharmacology 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662179/
https://www.ncbi.nlm.nih.gov/pubmed/26598595
http://dx.doi.org/10.9758/cpn.2015.13.3.324

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662179/
https://www.ncbi.nlm.nih.gov/pubmed/26598595
http://dx.doi.org/10.9758/cpn.2015.13.3.324

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