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Article

Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).

European journal of human genetics : EJHG - 1 Feb 2017

Hu Hao, Hübner Christoph, Lukacs Zoltan, Musante Luciana, Gill Esther, Wienker Thomas F, Ropers Hans-Hilger, Knierim Ellen, Schuelke Markus

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27827379
DOI: 10.1038/ejhg.2016.149
PMCID: PMC5255949

Genes

HGSNAT
NAGLU
SGSH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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