Stewart, Douglas R

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