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Sturge-Weber Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Sensorineural Hearing Loss in Children
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993
Anderson-Fabry Disease
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Acid Maltase Deficiency
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