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Compound heterozygous mutations in in a deaf child with absent cochlear nerves.

作者信息

Kari Elina, Schrauwen Isabelle, Llaci Lorida, Fisher Laurel M, Go John L, Naymik Marcus, Knowles James A, Huentelman Matthew J, Friedman Rick A

机构信息

Tina and Rick Caruso Department of Otolaryngology-Head and Neck Surgery (E.K., L.M.F., J.L.G., J.A.K., R.A.F.), Keck University of Southern California School of Medicine, Los Angeles; and TGen (I.S., L.L., M.N., M.J.H.), Translational Genomics Research Institute, Phoenix, AZ.

出版信息

Neurol Genet. 2017 May 11;3(3):e153. doi: 10.1212/NXG.0000000000000153. eCollection 2017 Jun.

DOI:10.1212/NXG.0000000000000153
PMID:28534045
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5427666/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bbe/5427666/835e41bb54de/NG2016004473FF1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bbe/5427666/835e41bb54de/NG2016004473FF1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bbe/5427666/835e41bb54de/NG2016004473FF1.jpg

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本文引用的文献

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Cochlear Implant Outcomes in Cochlea Nerve Aplasia and Hypoplasia.耳蜗神经发育不全和发育不良患者的人工耳蜗植入效果
Otol Neurotol. 2016 Jun;37(5):438-45. doi: 10.1097/MAO.0000000000000997.
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Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.新型MASP1突变与3MC1综合征的扩展表型相关。
Orphanet J Rare Dis. 2015 Sep 30;10:128. doi: 10.1186/s13023-015-0345-3.
3
Auditory brainstem implantation after unsuccessful cochlear implantation of children with clinical diagnosis of cochlear nerve deficiency.
临床诊断为蜗神经缺损的儿童人工耳蜗植入失败后行听觉脑干植入术。
Ann Otol Rhinol Laryngol. 2013 Oct;122(10):605-12.
4
Pediatric cochlear implantation of children with eighth nerve deficiency.第八神经缺损儿童的小儿人工耳蜗植入术。
Int J Pediatr Otorhinolaryngol. 2012 Oct;76(10):1442-8. doi: 10.1016/j.ijporl.2012.06.019. Epub 2012 Aug 24.
5
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.凝集素补体途径基因 COLEC11 和 MASP1 的突变导致 3MC 综合征。
Nat Genet. 2011 Mar;43(3):197-203. doi: 10.1038/ng.757. Epub 2011 Jan 23.