Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene-Reference-Cited by-同舟云学术

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

Published:2021-08-03 Issue:5 Volume:31 Page:162-167
ISSN:0955-8829
Container-title:Psychiatric Genetics
language:en
Short-container-title:

Author:

Zhang Lin,Zhao Su Li,Wang Zhi Hong

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Biological Psychiatry,Psychiatry and Mental health,Genetics(clinical),Genetics

Reference24 articles.

1. Pathophysiology of X-linked adrenoleukodystrophy.;Berger;Biochimie,2014

2. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening.;Bezman;Ann Neurol,2001

3. Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.;Castel;Nat Genet,2018

4. X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.;Engelen;Brain,2014

5. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.;Engelen;Orphanet J Rare Dis,2012

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population;Frontiers in Neurology;2023-02-28

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