一例ZMPSTE24基因复合杂合突变导致颅骨下颌骨皮肤发育不全B型的诊断和基因检测分析
吴丹丹, 李荣, 李晓南, 刘倩琦, 窦莉华
Diagnosis and genetic analysis of a case with mandibuloacral dysplasia type B due to compound heterozygous mutations of the ZMPSTE24 gene
Dandan Wu, Rong Li, Xiaonan Li, Qianqi Liu, Lihua Dou
遗传
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2022, (12): 1167
-1174
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DOI: 10.16288/j.yczz.22-117
