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Article

Neurodegeneration with brain iron accumulation 5: report of three cases.

Neurogenetics - 4 Dec 2024

Khalilian Sheyda, Fathi Mohadeseh, Ghahghaei-Nezamabadi Akram, Miryounesi Mohammad, Ghafouri-Fard Soudeh

Abstract excerpt

Neurodegeneration with brain iron accumulation 5 (NBIA5) is a distinctive type of NBIA phenotype that is caused by mutations in the WDR45 gene. This disorder is inherited in an X-linked manner. Here, we report three Iranian cases affected with this condition. Whole-exome sequencing revealed the following pathogenic variants within WDR45 gene in these cases, respectively: c.697 C > T (p.R233X), c.657_658del...

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PMID: 39627470
DOI: 10.1007/s10048-024-00783-7

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