A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies β-propeller protein-associated neurodegeneration (BPAN)-Reference-Cited by-同舟云学术

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A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies β-propeller protein-associated neurodegeneration (BPAN)

Published:2024-05 Issue:9 Volume:10 Page:e30438
ISSN:2405-8440
Container-title:Heliyon
language:en
Short-container-title:Heliyon

Author:

Peng Qiongling,Cui Ying,Wu Jin,Wu Lianying,Liu Jiajia,Han Yangyun,Lu Guanting^ORCID

Publisher

Elsevier BV

Reference65 articles.

1. Clinical and genetic delineation of neurodegeneration with brain iron accumulation;Gregory;J. Med. Genet.,2009

2. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA;Haack;Am. J. Hum. Genet.,2012

3. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood;Saitsu;Nat. Genet.,2013

4. BPAN: the only X-linked dominant NBIA disorder;Haack;Int. Rev. Neurobiol.,2013

5. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome;Hayflick;N. Engl. J. Med.,2003

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