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A 7-year-old boy with progressive developmental regression: A case of Sanfilippo disease
Ladan Afsharkhas, Parvaneh Karimzadeh, Fatemeh Hajizadeh Saffar, Nasim Sajadi, Hossein Ghaemi,
Volume 3, Issue 4 (11-2017)
Abstract
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 exome sequencing.
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