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Showing articles 0 to 11 of 11 Filter Applied: facial appearance,abnormal (Click to remove) Erroneous Diagnosis Corrected After 28 Years Arch Neurol 53:1194-1196, Gordon,P.H.,et al, 1996 Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement AJNR 40:903-907, Hartin, I.,et al, 2019 Acromegaly NEJM 393:1926-1939, Giustina,A. & Colao,A.,, 2025 Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis UptoDate 2022 Jan, Darras, B.T., 2022 Clinical Manifestations of Myasthenia Gravis UptoDate Aug 2016, Bird, S.J., 2016 Facial Bradykinesia JNNP 84:681-685, Bologna, M.,et al, 2013 Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003 Prader-Willi and Angelman Syndromes Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998 A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996 Myotonic Dystrophy In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994 Fucosidosis Revisited:A Review of 77 Patients Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991 Showing articles 0 to 11 of 11