Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
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
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Marfan Syndrome
NEJM 300:772-777, Pyeritz,R.E.,et al, 1979
Gyrate Atrophy of the Choroid & Retina with Hyperornithinemia:Tubular Aggreg. & Type 2 Fiber Atrophy
Neurol 29:966, Sipila,I.,et al, 1979