一名耳蜗神经缺失的失聪儿童存在复合杂合突变。 - Suppr

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

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Ann Otol Rhinol Laryngol. 2013 Oct;122(10):605-12.

Pediatric cochlear implantation of children with eighth nerve deficiency.

Int J Pediatr Otorhinolaryngol. 2012 Oct;76(10):1442-8. doi: 10.1016/j.ijporl.2012.06.019. Epub 2012 Aug 24.

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

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引用本文的文献

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本文引用的文献

Cochlear Implant Outcomes in Cochlea Nerve Aplasia and Hypoplasia.

Otol Neurotol. 2016 Jun;37(5):438-45. doi: 10.1097/MAO.0000000000000997.

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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.

Nat Genet. 2011 Mar;43(3):197-203. doi: 10.1038/ng.757. Epub 2011 Jan 23.

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

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

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