Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin.
作者:
主题词
无牙(Anodontia);儿童, 学龄前(Child, Preschool);女(雌)性(Female);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);人类(Humans);色素沉着不足(Hypopigmentation);虹膜疾病(Iris Diseases);突变, 误义(Mutation, Missense);成对盒转录因子类(Paired Box Transcription Factors)
DOI
10.1111/j.1525-1470.2009.01033.x
PMID
20199465
发布时间
2016-11-25
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Pediatric dermatology
759-61页
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