article_metadata: Ellen Denayer Magdalena Chmara Hilde Brems Anneke Maat Kievit Yolande van Bever Ans M W Van den Ouweland Rick Van Minkelen Arja de Goede-Bolder Rianne Oostenbrink Phillis Lakeman Eline Beert Takuma Ishizaki Tomoaki Mori Kathelijn Keymolen Jenneke Van den Ende Elisabeth Mangold Sirkku Peltonen Glen Brice Julia Rankin Karin Y Van Spaendonck-Zwarts Akihiko Yoshimura Eric Legius
article_metadata: 10.1002/humu.21404
article_metadata: Hum Mutat
article_metadata: 2011 Jan;32(1):E1985-98.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/21089071/
article_metadata: Cafe-au-Lait Spots / genetics
article_metadata: Cafe-au-Lait Spots / genetics Case Reports Research Support, Non-U.S. Gov't Adaptor Proteins, Signal Transducing Adolescent Adult Aged Brain / pathology Child Child, Preschool Female HEK293 Cells Humans Infant Intracellular Signaling Peptides and Proteins / genetics Intracellular Signaling Peptides and Proteins / metabolism Magnetic Resonance Imaging Male Membrane Proteins / genetics Membrane Proteins / metabolism Middle Aged Mutation Noonan Syndrome / diagnosis Noonan Syndrome / genetics Pedigree Phenotype Young Adult Adaptor Proteins, Signal Transducing Intracellular Signaling Peptides and Proteins Membrane Proteins SPRED1 protein, human Legius syndrome
article_metadata: PMC3038325
article_metadata: 21089071
article_metadata: Legius syndrome in fourteen families
article_metadata: 2011