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Article

WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.

Molecular and cellular probes - 1 Feb 2016

Hoffjan Sabine, Ibisler Aysegül, Tschentscher Anne, Dekomien Gabriele, Bidinost Carla, Rosa Alberto L

Abstract excerpt

Mutations in the WDR45 gene have been identified as causative for the only X-linked type of neurodegeneration with brain iron accumulation (NBIA), clinically characterized by global developmental delay in childhood, followed by a secondary neurological decline with parkinsonism and/or dementia in adolescence or early adulthood. Recent reports suggest that WDR45 mutations are associated with a broader phenotypic...

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Identifiers

PMID: 26790960
DOI: 10.1016/j.mcp.2016.01.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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