Case Report: Aggressive Tibial Pseudarthrosis as Primary Symptom in Infant with Neurofibromatosis
Mary Alice Reid, Madeline Zupan, Nicole Sevison, Barbara Calhoun, Kasturi Haldar
This case report describes an infant with aggressive tibial pseudarthrosis as the primary symptom of neurofibromatosis, diagnosed through exome sequencing after initial clinical suspicion.
bioRxiv · Jul 27, 2016 · PreprintGenetics