Symmetrical infantile thalamic degeneration in two sibs.
作者信息
Abuelo D N, Barsel-Bowers G, Tutschka B G, Ambler M, Singer D B
出版信息
J Med Genet. 1981 Dec;18(6):448-50. doi: 10.1136/jmg.18.6.448.
Abstract
This is the first observation of two cases of symmetrical infantile thalamic degeneration with cell mineralisation in a family. Although it cannot be established at present, autosomal recessive inheritance of a metabolic error causing or predisposing to damage to specific areas of the central nervous system is a possible aetiology for this condition.
摘要
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