Ontology highlight
ABSTRACT:
SUBMITTER: Hu H
PROVIDER: S-EPMC5255949 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Hu Hao H Hübner Christoph C Lukacs Zoltan Z Musante Luciana L Gill Esther E Wienker Thomas F TF Ropers Hans-Hilger HH Knierim Ellen E Schuelke Markus M
European journal of human genetics : EJHG 20161109 2
Klüver-Bucy syndrome (KBS) comprises a set of neurobehavioral symptoms with psychic blindness, hypersexuality, disinhibition, hyperorality, and hypermetamorphosis that were originally observed after bilateral lobectomy in Rhesus monkeys. We investigated two siblings with KBS from a consanguineous family by whole-exome sequencing and autozygosity mapping. We detected a homozygous variant in the heparan-α-glucosaminidase-N-acetyltransferase gene (HGSNAT; c.518G>A, p.(G173D), NCBI ClinVar RCV000239 ...[more]