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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Cockayne Syndrome: Review of 140 Cases
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