Symmetrical infantile thalamic degeneration in two sibs

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 nervou...

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Published in:Journal of medical genetics 1981-12, Vol.18 (6), p.448-450
Main Authors: Abuelo, Dianne N, Barsel-Bowers, Gail, Tutschka, Barbara G, Ambler, Mary, Singer, Don B
Format: Article
Language:English
Subjects:
Female
Genes, Recessive
Genetic Counseling
Humans
Infant, Newborn
Male
Risk
Thalamic Diseases - genetics
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container_end_page 450
container_issue 6
container_start_page 448
container_title Journal of medical genetics
container_volume 18
creator Abuelo, Dianne N
Barsel-Bowers, Gail
Tutschka, Barbara G
Ambler, Mary
Singer, Don B
description 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.
doi_str_mv 10.1136/jmg.18.6.448
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source PubMed Central
subjects Female
Genes, Recessive
Genetic Counseling
Humans
Infant, Newborn
Male
Risk
Thalamic Diseases - genetics
title Symmetrical infantile thalamic degeneration in two sibs
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