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A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.

Mammalian genome : official journal of the International Mammalian Genome Society

Biagosch CA, Vidali S, Faerberboeck M, Hensler SV, Becker L, Amarie OV, Aguilar-Pimentel A, Garrett L, Klein-Rodewald T, Rathkolb B, Zanuttigh E, Calzada-Wack J, da Silva-Buttkus P, Rozman J, Treise I, Fuchs H, Gailus-Durner V, de Angelis MH, Janik D, Wurst W, Mayr JA, Klopstock T, Meitinger T, Prokisch H, Iuso A.
PMID: 34043061
Mamm Genome. 2021 Oct;32(5):332-349. doi: 10.1007/s00335-021-09875-3. Epub 2021 May 27.

Pathogenic variants in the WDR45 (OMIM: 300,526) gene on chromosome Xp11 are the genetic cause of a rare neurological disorder characterized by increased iron deposition in the basal ganglia. As WDR45 encodes a beta-propeller scaffold protein with a putative...

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