Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma.
Department of Orthopedics and Joint Surgery, Zhejiang Provincial People's Hospital, 158 Shangtang Road, Hangzhou, 310000, Zhejiang, China.
Jian
J
Wu
Wenzhou Medical University, 109 Xueyuan West Road, Wenzhou, 325000, Zhejiang, China.
Mingxiang
M
Kong
Wenzhou Medical University, 109 Xueyuan West Road, Wenzhou, 325000, Zhejiang, China. complex316@163.com.
Qing
Q
Bi
D000328:Adult; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009442:Neurilemmoma / Q000150:complications / Q000235:genetics*; D017253:Neurofibromatoses / Q000150:complications / Q000235:genetics*; D009464:Neuroma, Acoustic / Q000150:complications / Q000235:genetics*; D000071796:SMARCB1 Protein; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D002868:Chromosomal Proteins, Non-Histone; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors