Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability
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DOI: 10.1097/mcd.0000000000000433
Abstract: Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon and Departments of Pediatric Gastroenetrology, Radiology and Pediatrics, Kartal Dr. Lutfi Kirdar City… read more here.
Keywords: neurology; lutfi kirdar; kartal lutfi; novel guanosine ... See more keywords