Methods
PatientsSixteen patients with novel variants in the MAP3K7 gene were
included in this clinical observation with functional laboratory
analysis of the variants. Patients were identified in the clinical
setting with trio whole-exome sequencing. Patients from five countries
(7 medical centers in total) were identified using Genematcher (Sobreira
et al., 2015). Written consent was obtained from adult patients and
parents of pediatric patients for participation in the study and for
publishing photographs.