Volume 4, Issue 2 (5-2018)                   IJCA 2018, 4(2): 0-0 | Back to browse issues page

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Afsharkhas L, Karimzadeh P, Hajizadeh Saffar F. A 7 Year Old Boy with Progressive Developmental Regression: A Case of Sanfilippo Disease. IJCA 2018; 4 (2)
URL: http://ijca.iums.ac.ir/article-1-104-en.html
A 7 Year Old Boy with Progressive Developmental Regression: A Case of Sanfilippo Disease
Ladan Afsharkhas , Parvaneh Karimzadeh , Fatemeh Hajizadeh Saffar
Iran University of Medical Sciences
Abstract:   (1882 Views)
We present the case of a 7 year old boy with a history of aggressive behavior, speech delay and progressive neurodevelopmental regression. Mucopolysaccharidosis was suspected based on skeletal and behavioral symptoms and confirmed by whole exone sequencing.
Keywords: San Filippo, Mucopolysaccharidosis, Whole Exone Sequencing
     
Type of Study: case report |
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