Male Carrier of X-Linked Adrenal Leukodystrophy Due to 47, XXY Karyotype-Reference-Cited by-同舟云学术

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Male Carrier of X-Linked Adrenal Leukodystrophy Due to 47, XXY Karyotype

Published:2024-05-01 Issue:5 Volume:81 Page:549
ISSN:2168-6149
Container-title:JAMA Neurology
language:en
Short-container-title:JAMA Neurol

Author:

Ni Yu¹²,Liu Chen³,Tan Liang¹

Affiliation:

1. 7T Magnetic Resonance Translational Medicine Research Center, Department of Neurosurgery, Southwest Hospital, Army Medical University (Third Military Medical University), Chongqing, China

2. Department of Nephrology, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou, China

3. Department of Radiology, Southwest Hospital, Army Medical University, (Third Military Medical University), Chongqing, China

Abstract

This case report studies a 12-year-old boy with a family history of X-linked adrenal leukodystrophy and his 8-year-old younger brother.

Publisher

American Medical Association (AMA)

Link

https://jamanetwork.com/journals/jamaneurology/articlepdf/2815833/jamaneurology_ni_2024_im_240001_1714578896.39479.pdf

Reference4 articles.

1. Evaluation of X-linked adrenoleukodystrophy newborn screening in North Carolina.;Lee;JAMA Netw Open,2020

2. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.;Mosser;Nature,1993

3. USP26: a genetic risk factor for sperm X-Y aneuploidy.;Kauppi;EMBO J,2021

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

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