A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction
Faruk Ekıncı, Riza Dincer Yildizdas, Özden Özgür Horoz, Özlem Hergüner, Atıl Bişgin
Topics & Concepts
MedicineMicrocephalyFrameshift mutationDiabetes insipidusPathologyImmunologyInternal medicineBiologyMutationPediatricsGeneticsGeneBarrier Structure and Function StudiesFetal and Pediatric Neurological DisordersRNA regulation and disease