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NEJM 378:941-948, Case 7-2018, 2018
Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
Neurol 88:1478-1479, Masson, R.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972