Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. [electronic resource]
- Genetics in medicine : official journal of the American College of Medical Genetics Jun 2014
- 448-59 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1530-0366
10.1038/gim.2013.163 doi
Adaptor Proteins, Signal Transducing Adolescent Adult Bone Neoplasms--genetics Cafe-au-Lait Spots--genetics Cells, Cultured Child Child, Preschool Chromogranins Female Fibroma--genetics GTP-Binding Protein alpha Subunits, Gs--genetics Germ-Line Mutation Humans Infant Intracellular Signaling Peptides and Proteins--genetics Male Membrane Proteins--genetics Neurofibromatosis 1--diagnosis Neurofibromin 1--genetics Sex Ratio Young Adult