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Article

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.

American journal of medical genetics. Part A - 1 May 2018

Willoughby Josh, Duff-Farrier Celia, Desurkar Archana, Kurian Manju, Raghavan Ashok, Balasubramanian Meena

Abstract excerpt

WDR45 gene-associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta-propeller protein-associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting global developmental delay. This case report illustrates the power of a combination of trio exome sequencing, in silico splicing analysis, and mRNA analysis to...

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PMID: 29681108
DOI: 10.1002/ajmg.a.38656

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