A rare case of Niemann Pick Disease with a novel variant in the NPC2 gene presenting with neuropsychiatric manifestations in middle age

Asian J Psychiatr. 2024 Jul:97:104089. doi: 10.1016/j.ajp.2024.104089. Epub 2024 May 20.

¹ Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore (NIMHANS), 560029, India.
² Department of Molecular Genetics, National Institute of Mental Health And Neurosciences (NIMHANS), Bangalore 560029, India.
³ Central Queensland Hospital and Health Service, Gladstone, Queensland 4680, Australia; Department of Psychiatry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore 560029, India. Electronic address: [email protected].

No abstract available

Keywords: Homozygous missense variation; Neimann Pick Disease; Whole exome sequencing.

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