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
10.1002/humu.21404
Hum Mutat
2011 Jan;32(1):E1985-98.
CC BY
https://pubmed.ncbi.nlm.nih.gov/21089071/
Cafe-au-Lait Spots / genetics
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
PMC3038325
21089071
Legius syndrome in fourteen families
2011