一例 β - 螺旋桨蛋白相关神经变性 , WDR45 基因有独特的截短变异 , 临床和放射学发现罕见。
关键词: beta-propeller protein-associated neurodegeneration (bpan) genotype-phenotype correlations neurodegeneration with brain iron accumulation (nbia) pediatric genetics pediatric rare diseases wdr45
来 源:
DOI:10.7759/cureus.58127
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