Brainstem dominant form of X-linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review.
Yulai KangLu GuoZhuo MinLei ZhangLili ZhangChunhua TangPublished in: Molecular genetics & genomic medicine (2024)
We reported an X-ALD patient with a novel ABCD1 variation characterized by brainstem damage and retrospectively summarized the clinical manifestation, MRI features, and genetic features of X-ALD patients with brainstem damage.