Legius Syndrome in Fourteen Families

Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties. It is caused by germline loss-of-function SPRED1 mutations and is a member of the RAS-MAPK pathway syndrome...

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Detalles Bibliográficos
Autores principales: Denayer, Ellen, Chmara, Magdalena, Brems, Hilde, Kievit, Anneke Maat, van Bever, Yolande, Van den Ouweland, Ans MW, Van Minkelen, Rick, de Goede-Bolder, Arja, Oostenbrink, Rianne, Lakeman, Phillis, Beert, Eline, Ishizaki, Takuma, Mori, Tomoaki, Keymolen, Kathelijn, Van den Ende, Jenneke, Mangold, Elisabeth, Peltonen, Sirkku, Brice, Glen, Rankin, Julia, Van Spaendonck-Zwarts, Karin Y, Yoshimura, Akihiko, Legius, Eric
Formato: Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Mutation in Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3038325/
https://www.ncbi.nlm.nih.gov/pubmed/21089071
http://dx.doi.org/10.1002/humu.21404

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