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

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 fa...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: Hu, Hao, Hübner, Christoph, Lukacs, Zoltan, Musante, Luciana, Gill, Esther, Wienker, Thomas F, Ropers, Hans-Hilger, Knierim, Ellen, Schuelke, Markus
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2017
Gaiak:
Short Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5255949/
https://ncbi.nlm.nih.gov/pubmed/27827379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.149
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