Neurofibromatosis.

Stephen H Tsang, Tarun Sharma

Journal: Advances in experimental medicine and biology 2019;1085():209-211

PMID: 30578517

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.

Address: 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.; Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.; Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA. [email protected].

DOI: 10.1007/978-3-319-95046-4_44

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https://antibodies.cancer.gov/detail/CPTC-NF1-1

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Full Text Sources:

https://dx.doi.org/10.1007/978-3-319-95046-4_44

MeSH Terms: Humans, Mutation, Neurofibromatosis 1, Penetrance