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Article

Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review.

American journal of medical genetics. Part A - 1 Feb 2021

Kano Kanako, Yamanaka Gaku, Muramatsu Kazuhiro, Morichi Shinichiro, Ishida Yu, Takamatsu Tomoko, Suzuki Shinji, Miyajima Tasuku, Nakagawa Eiji, Nishino Ichizo, Kawashima Hisashi

Abstract excerpt

Several patients with beta-propeller protein-associated neurodegeneration (BPAN)/static encephalopathy with neurodegeneration in adulthood have been reported to present Rett syndrome (RTT)-like features. This report presents an individual with BPAN showing clinical features of RTT. Psychomotor delay and epilepsy onset were noted at 1 year, and regression began at 4 years. Screening of the methyl-CpG binding...

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PMID: 33251766
DOI: 10.1002/ajmg.a.61993

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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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