A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)

Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is an X-linked dominant neurodegenerative disorder, and is classified as a subtype of neurodegeneration with brain iron accumulation. Recently, de novo heterozygous mutations in WDR45 at Xp11.23 have been reported in pati...

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Pubblicato in:Am J Med Genet A
Autori principali: Ozawa, Tadashi, Koide, Reiji, Nakata, Yasuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi, Takahashi, Kazushi, Nakano, Imaharu, Orimo, Satoshi
Natura: Artigo
Lingua:Inglês
Pubblicazione: BlackWell Publishing Ltd 2014
Soggetti:
Clinical Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4278411/
https://ncbi.nlm.nih.gov/pubmed/25044655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36635
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