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[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

No to hattatsu = Brain and development - 1 May 2016

Morisada Naoya, Tsuneishi Syuichi, Taguchi Kazuhiro, Yagi Ryuzaburo, Nishiyama Masahiro, Toyoshima Daisaku, Nakagawa Taku, Takeshima Yasuhiro, Takada Satoshi, Iijima Kazumoto

Abstract excerpt

Beta-propeller protein-associated neurodegeneration (BPAN) is one of the neurodegenerative disorders characterized by iron deposition in the brain and is the only known disease in humans to be caused by an aberration in autophagocytosis. Here, we present the case of a 42-year-old woman with BPAN identified by the WDR45 mutation. From early childhood, she was recognized as having global developmental delay, and...

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PMID: 27349085

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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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