Detail Information
Publications
SPRED 1 mutations in a neurofibromatosis clinicTalia M Muram-Zborovski
Department of Pathology, University of Utah, Salt Lake City, Utah, USA
J Child Neurol 25:1203-9. 2010..The likelihood an individual is harboring a SPRED1 mutation increases with age if multiple, nonpigmentary NF1 findings are absent. Legius syndrome patients may benefit from altered medical surveillance...
NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1Talia M Muram-Zborovski
Department of Pathology, University of Utah, SLC, Utah, USA
Am J Med Genet A 152:1973-8. 2010....
