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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
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Red Papules on the Tongue of a Patient with Hemiparesis
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Neurological Manifestations in Xeroderma Pigmentosum
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Chediak-Higashi Syndrome
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
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Extreme Insulin Resistance in Ataxia Telangiectasia
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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A 62-Year-Old Woman with Transient Vision Loss
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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Rare Cause of Hemiparesis and Ataxia in a 36-Year-Old Man
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Updates on Sturge-Weber Syndrome
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Sturge-Weber Syndrome
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Brain and Skin Involvement in Erdheim-Chester Disease
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 14-Year-Old Girl with Headache, Seizures, and Confusion
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Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
A 58-year-old Woman with Systemic Scleroderma and Progressive Cervical Cord Compression
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Neuronal Intranuclear Inclusion Disease Showing Intranuclear Inclusions in Renal Biopsy 12 Years Earlier
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Neuro-Sweet Disease Presenting as Ischemic Stroke and Aseptic Meningitis
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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Clinicopathologic Conference, Somnolence due to the Cerebral Fat Embolism Syndrome
NEJM 375:370-378, Case 23-2016, 2016
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinicopathologic Conference, Invasive Neisseria Meningitidis Infection and Primary C8 Deficiency
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Extraintestinal Manifestations of Coeliac Disease
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Clinicopathologic Conference, Infective Endocarditis and Infectious Aortitis due to Staphylococcus Aureus
NEJM 370:651-660, Case 5-2014, 2014
Clinicopathologic Conference, Streptococcus Bovis Associated Meningitis and the Strongyloides Stercoralis Hypertension Syndrome
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Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
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Sturge-Weber Syndrome
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Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Lyme Disease (Erythema Chronicum Migrans; Borreliosis
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Sturge-Weber Syndrome
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An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Neurofibromatosis Type 2
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Aicardi-Gouti�res Syndrome
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Nearly Completely Reversible Brain Abnormalities in a Patient With Incontinentia Pigmenti
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Tuberous Sclerosis
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Overview of Phenylketonuria
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Phenylketonuria
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The Tuberous Sclerosis Complex
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Clinicopath Conf., Degoss Disease
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