Article
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.
AJNR. American journal of neuroradiology - 3 Oct 2024
Neeman Bar, Sudhakar Sniya, Biswas Asthik, Rosenblum Jessica, Sidpra Jai, D'Arco Felice, Löbel Ulrike, Gómez-Chiari Marta, Serrano Mercedes, Bolasell Mercè, Reddy Kartik, Ben-Sira Liat, Zakzouk Reem, Al-Hashem Amal, Mirsky David M, Patel Rajan, Radhakrishnan Rupa, Shekdar Karuna, Whitehead Matthew T, Mankad Kshitij
Abstract excerpt
BACKGROUND AND PURPOSE: Sotos syndrome is a rare autosomal dominant condition caused by pathogenic mutations in the NSD1 gene that presents with craniofacial dysmorphism, overgrowth, seizures, and neurodevelopmental delay. Macrocephaly, ventriculomegaly, and corpus callosal dysmorphism are typical neuroimaging features that have been described in the medical literature. The purpose of this study was to expand on...
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