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Article

Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene.

Psychiatric genetics - 1 Oct 2021

Zhang Lin, Zhao Su Li, Wang Zhi Hong

Abstract excerpt

OBJECTIVE: This study summarized the clinical characteristics of X-linked adrenoleukodystrophy (X-ALD) patients in this family, and two different manifestations of the same variants in a Chinese family were reported in this article. That conducted a follow-up study to further clarify the characteristics of this disease. BASIC METHODS: Clinical data and test results were analyzed, and the exon region of...

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PMID: 34347682
DOI: 10.1097/YPG.0000000000000292

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