Article
Legius syndrome in fourteen families.
Human mutation - 1 Jan 2011
Denayer Ellen, Chmara Magdalena, Brems Hilde, Kievit Anneke Maat, van Bever Yolande, Van den Ouweland Ans M W, 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
Abstract excerpt
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 syndr...
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