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Article

Phenotypic and Imaging Spectrum Associated With WDR45.

Pediatric neurology - 1 Aug 2020

Adang Laura A, Pizzino Amy, Malhotra Alka, Dubbs Holly, Williams Catherine, Sherbini Omar, Anttonen Anna-Kaisa, Lesca Gaetan, Linnankivi Tarja, Laurencin Chloé, Milh Matthieu, Perrine Charles, Schaaf Christian P, Poulat Anne-Lise, Ville Dorothee, Hagelstrom Tanner, Perry Denise L, Taft Ryan J, Goldstein Amy, Vossough Arastoo, Helbig Ingo, Vanderver Adeline

Abstract excerpt

BACKGROUND: Mutations in the X-linked gene WDR45 cause neurodegeneration with brain iron accumulation type 5. Global developmental delay occurs at an early age with slow progression to dystonia, parkinsonism, and dementia due to progressive iron accumulation in the brain. METHODS: We present 17 new cases and reviewed 106 reported cases of neurodegeneration with brain iron accumulation type 5. Detailed information...

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Carrier Proteins
Cohort Studies
Demyelinating Diseases
Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Exome Sequencing

Iron Metabolism Disorders

Neuroaxonal Dystrophies

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Identifiers

PMID: 32387008
DOI: 10.1016/j.pediatrneurol.2020.03.005
PMCID: PMC7387198

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