Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.
Bingzi DongWenshan LvLili XuYuhang ZhaoXiaofang SunZhongchao WangBingfei ChengZhengju FuYangang WangPublished in: International journal of endocrinology (2022)
The early warning manifestations should be noticed, and the probability of X-ALD should be considered. This report could be beneficial for the early diagnosis and genetic counseling for patients with X-ALD.