Encephalocraniocutaneous Lipomatosis
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Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-319-31512-6_49-1
Reference28 articles.
1. Ayer RE, Zouros A (2011) Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications. J Neurosurg Pediatr 8(3):316–320
2. Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJ, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RC, Chung B, Lehman A, Su J, Ng S, Amor DJ, University of Washington Center for Mendelian Genomics, Care4Rare Canada Consortium, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O’Driscoll M, Moog U, McDonell LM (2016) Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis. Am J Hum Genet 98(3):579–587
3. Boppudi S, Bögershausen N, Hove HB, Ferda Percin E, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lißewski C, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M (2016) Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Clin Genet. doi:10.1111/cge.12775. [Epub ahead of print]
4. Brassesco MS, Valera ET, Becker AP, Castro-Gamero AM, de Aboim Machado A, Santos AC, Scrideli CA, Oliveira RS, Machado HR, Tone LG (2010) Low-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis. J Neuro-Oncol 96(3):437–441
5. Chandravanshi SL (2014) Encephalocraniocutaneous lipomatosis: a case report and review of the literature. Indian J Ophthalmol 62(5):622–627
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