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Showing articles 0 to 8 of 8 Filter Applied: facial appearance,abnormal (Click to remove) The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification Neurol 87:e56-e57, Saini, A.G.,et al, 2016 Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency NEJM 375:1879-1890, Case 34-2016, 2016 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 Angelman Syndrome: Clinical Profile J Child Neurol 7:270-280, Zori,R.T.,et al, 1992 Cockayne Syndrome: Review of 140 Cases Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992 A Clinical Study of Noonan Syndrome Arch Dis Child 67:178-183, Sharland, M.,et al, 1992 Fucosidosis Revisited:A Review of 77 Patients Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991 Showing articles 0 to 8 of 8