Article
Creation of an international registry to support discovery in schwannomatosis.
American journal of medical genetics. Part A - 1 Feb 2017
Ostrow K L, Bergner A L, Blakeley J, Evans D G, Ferner R, Friedman J M, Harris G J, Jordan J T, Korf B, Langmead S, Leschziner G, Mautner V, Merker V L, Papi L, Plotkin S R, Slopis J M, Smith M J, Stemmer-Rachamimov A, Yohay K, Belzberg A J
Abstract excerpt
Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations...
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