Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1
Edith Said, Jessica X. Chong, Maja Hempel, Jonas Denecke, Paul Soler, Tim Matthias Strom, Deborah A. Nickerson, Christian Kubisch, Michael J. Bamshad, Davor Lessel
The paper reports two individuals with GLE1 mutations surviving beyond the perinatal period, expanding the phenotype of LAAHD to include childhood survival.
American Journal of Medical Genetics Part A · Sep 8, 2017Peer-reviewedGenetics