Article
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
Clinical genetics - 1 Oct 2016
Boppudi S, Bögershausen N, Hove H B, Percin E F, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft P B, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian M R, Heindl L M, Zenker M
Abstract excerpt
Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more than 50 patients with ECCL have been reported. Both diseases were proposed to represent mosaic disorders, but only...
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