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1.
Charif, M.* et al.: Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults. JAMA Neurol. 75, 105-113 (2018)
2.
Riedhammer, K.M.* et al.: Identification of a novel heterozygous de novo 7-bp frameshift deletion in PBX1 by whole-exome sequencing causing a multi-organ syndrome including bilateral dysplastic kidneys and hypoplastic clavicles. Front. Pediatr. 5:251 (2017)