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Updated: Aug 3, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Defective maturation of granulocytes, retinal cysts and multiple skeletal malformations in a mentally retarded girl
Abstract:
A case of congenital malformations of the extremities (deformed thumbs and great toes, dislocation of the hips, limitation of motion of the joints of the lower extremities), bilateral microphthalmia, bilateral retinal cysts, cerebral atrophy epilepsy, severe physical and mental retardation and monolobed neutrophil granulocytes is reported. A similar clinical picture has not previously been described. We assume that the patient suffers from a sublethal genetic disorder.
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