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Arch Pathol Lab Med. 1987 Feb;111(2):151-3.

Pathologic findings in adrenoleukodystrophy heterozygotes.

Abstract

Two women, heterozygous for X-linked adrenoleukodystrophy, contained striated adrenocortical cells without inflammation and central nervous system demyelinative lesions. Only one was symptomatic neurologically; neither exhibited hypoadrenalism. These findings further document the variability of adrenoleukodystrophy heterozygotes and provide evidence that the major pathologic differences between hemizygote and heterozygote are quantitative in nature.

PMID:
3813829
[Indexed for MEDLINE]
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