Article
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Brain : a journal of neurology - 1 May 2013
Kevelam Sietske H, Bugiani Marianna, Salomons Gajja S, Feigenbaum Annette, Blaser Susan, Prasad Chitra, Häberle Johannes, Baric Ivo, Bakker Ingrid M C, Postma Nienke L, Kanhai Warsha A, Wolf Nicole I, Abbink Truus E M, Waisfisz Quinten, Heutink Peter, van der Knaap Marjo S
Abstract excerpt
To accomplish a diagnosis in patients with a rare unclassified disorder is difficult. In this study, we used magnetic resonance imaging pattern recognition analysis to identify patients with the same novel heritable disorder. Whole-exome sequencing was performed to discover the mutated gene. We identified seven patients sharing a previously undescribed magnetic resonance imaging pattern, characterized by initial...
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