A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate-Reference-Cited by-同舟云学术

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

Published:2015-12-31 Issue:3 Volume:13 Page:324-326
ISSN:1738-1088
Container-title:Clinical Psychopharmacology and Neuroscience
language:en
Short-container-title:Clin Psychopharmacol Neurosci

Author:

Yamazaki Kiyohiro¹,Yoshino Yuta¹,Mori Yoko¹,Ochi Shinichiro¹,Yoshida Taku¹,Ishimaru Takashi¹,Ueno Shu-ichi¹

Affiliation:

1. Department of Neuropsychiatry, Ehime University Graduate School of Medicine, Toon, Japan

Publisher

Korean College of Neuropsychopharmacology

Subject

Pharmacology (medical),Behavioral Neuroscience,Psychiatry and Mental health

Link

http://pdf.medrang.co.kr/CPN2/2015/013/cpn-13-324.pdf

Reference11 articles.

1. Hakola, HP (1972). Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiatr Scand Suppl. 232, 1-173.

2. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts

3. Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

4. Nasu-Hakola Disease (PLOSL)

5. Diagnostic Clinical Genome and Exome Sequencing

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