Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review
Shibata, Yuka, Matsushima, Masaaki, Matsukawa, Takashi, Ishiura, Hiroyuki, Tsuji, Shoji, Yabe, IchiroJournal:
Journal of Human Genetics
DOI:
10.1038/s10038-020-00866-x
Date:
October, 2020
File:
PDF, 774 KB
2020