Oculoectodermal syndrome is a mosaic RASopathy associated withKRASalterations
Author:
Affiliation:
1. Van Andel Research Institute; Grand Rapids; Michigan
2. Michigan State University College of Human Medicine; Grand Rapids; Michigan
3. Spectrum Health; Grand Rapids; Michigan
4. Helen DeVos Children's Hospital, Grand Rapids Michigan
Funder
Van Andel Research Institute
Wells Fargo Advisors, LLC – Grand Rapids Complex
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference42 articles.
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2. The RAS/MAPK syndromes: Novel roles of the RAS pathway in human genetic disorders;Aoki;Hum Mutat,2008
3. Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis;Ardinger;Am J Med Genet A,2007
4. Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum;Aslan;Am J Med Genet A,2014
5. Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys, and rhabdomyosarcoma;Bourdeaut;J Med Genet,2010
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