Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

• 期刊名称Genetics in Medicine
• 作者Evans, D. Gareth; King, Andrew T.; Bowers, Naomi L.; Tobi, Simon; Wallace, Andrew J.; Perry, Mary; Anup, Raji; Lloyd, Simon K. L.; Rutherford, Scott A.; Hammerbeck-Ward, Charlotte; Pathmanaban, Omar N.; Stapleton, Emma; Freeman, Simon R.; Kellett, Mark; Halliday, Dorothy; Parry, Allyson; Gair, Juliette J.; Axon, Patrick; Laitt, Roger; Thomas, Owen; Afridi, Shazia; Ferner, Rosalie E.; Harkness, Elaine F.; Smith, Miriam J.
• 印刷ISSN1098-3600
• 电子ISSN1530-0366
• 文件大小304.35KB
• 发表时间2018-12-7
• DOI10.1038/s41436-018-0384-y