Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.
Edda HaberlandtTaras ValovkaTanja JanjicThomas MüllerGeorgios BlatsiosDaniela KarallAndreas R JaneckePublished in: Molecular genetics & genomic medicine (2021)
DOCK7 deficiency causes a definable clinical entity, a recognizable type of epileptic encephalopathy.
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