Article
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2024
Garzon Jenny P, Patete Andrea, Aschbacher-Smith Lindsey, Qu'd Dima, Kelly-Mancuso Geraldine, Raski Carolyn R, Weisman Allison Goetsch, Hankins Madison, Sawin Michael, Kim Katherine, Drackley Andy, Zeid Janice, Weaver K Nicole, Hopkin Robert J, Saal Howard M, Charrow Joel, Schorry Elizabeth, Listernick Robert, Simpson Brittany N, Prada Carlos E
Abstract excerpt
Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart review from 1994 to 2024 of individuals with NF-1 microdeletion syndrome followed at two large Neurofibromatosis Clinics. This cohort consists...
Topics
- Humans
- Male
- Female
- Neurofibromatosis 1
- Child
- Phenotype
- Adolescent
- Adult
- Child, Preschool