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Neurofibromatosis

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Book cover Atlas of Inherited Retinal Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1085))

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Abstract

The mode of inheritance is autosomal dominant (AD), with about 80% penetrance, but about half of cases have spontaneous mutations with no family history.

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Suggested Reading

  • Evans DG. Neurofibromatosis 2 [bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]. Genet Med. 2009;11:599–610.

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  • Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278:51–7.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA

    Stephen H. Tsang

  2. Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA

    Stephen H. Tsang & Tarun Sharma

Authors
  1. Stephen H. Tsang
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  2. Tarun Sharma
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Correspondence to Tarun Sharma .

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Editors and Affiliations

  1. Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons Columbia University, New York, NY, USA

    Stephen H. Tsang

  2. Department of Ophthalmology, Edward S. Harkness Eye Institute NewYork-Presbyterian Hospital Columbia University, New York, NY, USA

    Tarun Sharma

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Tsang, S.H., Sharma, T. (2018). Neurofibromatosis. In: Tsang, S., Sharma, T. (eds) Atlas of Inherited Retinal Diseases. Advances in Experimental Medicine and Biology, vol 1085. Springer, Cham. https://doi.org/10.1007/978-3-319-95046-4_44

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