UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

Nicole De Leeuw, Saskia Bulk, Andrew Green, Lane Jaeckle-Santos, Linda A. Baker, Andrew R. Zinn, Tjitske Kleefstra, Jasper J. Van Der Smagt, Angela Maria Vianne Morgante, Bert B A De Vries, Hans Van Bokhoven, Arjan P M De Brouwer

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