Article
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jan 2018
Balci Tugce B, Davila Jorge, Lewis Denice, Boafo Addo, Sell Erick, Richer Julie, Nikkel Sarah M, Armour Christine M, Tomiak Eva, Lines Matthew A, Sawyer Sarah L
Abstract excerpt
White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features associated with PTEN mutations, such as autism spectrum disorder (ASD) or developmental delay, has not been well established. We report nine patients with PTEN mutations and white matter changes on brain magnetic resonance imaging (MRI), eight of whom were...
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