The desmosterolosis phenotype: Spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

Jenny Zolotushko, Hagit Flusser, Barak Markus, Ilan Shelef, Yshaia Langer, Maura Heverin, Ingemar Björkhem, Sara Sivan, Ohad S. Birk

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