与NF2相关的斯万诺马托सिस的临床流行病学

D Gareth Evans1, Scott R Plotkin2

  • 1Division of Evolution, Infection and Genomics, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.

PubMed
概括

与神经纤维素瘤类型2 (NF2) 相关的 schwannomatosis 影响大约每50500个人中就有1人. 早期的分子测试有助于儿童诊断这种罕见的遗传疾病.