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Article

A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).

American journal of medical genetics. Part A - 1 Sept 2014

Ozawa Tadashi, Koide Reiji, Nakata Yasuhiro, Saitsu Hirotomo, Matsumoto Naomichi, Takahashi Kazushi, Nakano Imaharu, Orimo Satoshi

Abstract excerpt

Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is an X-linked dominant neurodegenerative disorder, and is classified as a subtype of neurodegeneration with brain iron accumulation. Recently, de novo heterozygous mutations in WDR45 at Xp11.23 have been reported in patients with SENDA. We report the clinical and neuroradiological findings of a patient with SENDA with a novel c.322del...

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Identifiers

PMID: 25044655
DOI: 10.1002/ajmg.a.36635
PMCID: PMC4278411

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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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