Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
AJNR 35:402-406, Bhargava, R.,et al, 2014
Sturge-Weber Syndrome
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Sturge-Weber Syndrome
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
JAMA 302:2111-2118, 2150, 2170, Messian,L.,et al, 2009
Phenylketonuria
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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Cranial MR Imaging in Hypomelanosis of Ito
J Comput Assist Tomogr 14:981-983, Williams III,D.W.&Elster,A.D., 1990
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
Congenital Anomalies & Herpesvirus Infection
Am J Dis Child 126:364, Montogomery,J.R.,et al, 1973