Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer.
Sahlin
Pelle
P
Tarnow
Peter
P
Martinsson
Tommy
T
Stenman
Göran
G
D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000473:pathology; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D051879:Twist-Related Protein 1 / Q000235:genetics*
D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3