Ehlers-Danlos Syndromes
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
Neurol 46:1128-1132, Pellegrino,J.E.,et al, 1996
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Anderson-Fabry Disease
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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Sturge-Weber Syndrome
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
NEJM 368:1971-1979, Shirley, M.,et al, 2013
An unusual cause of stroke and hypoxia
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Aicardi-Gouti�res Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Tuberous Sclerosis
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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The Tuberous Sclerosis Complex
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Hereditary Hemorrhagic Telangiectasia
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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