Literature DB >> 27681470

Severe infantile male encephalopathy is a result of early post-zygotic WDR45 somatic mutation.

R Spiegel1,2, S Shalev1,3, D Bercovich4,5, D Rabinovich4, M Khayat2, A Shaag6, O Elpeleg6.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 27681470     DOI： 10.1111/cge.12849

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  4 in total

1.  Phenotypic and Imaging Spectrum Associated With WDR45.

Authors:  Laura A Adang; Amy Pizzino; Alka Malhotra; Holly Dubbs; Catherine Williams; Omar Sherbini; Anna-Kaisa Anttonen; Gaetan Lesca; Tarja Linnankivi; Chloé Laurencin; Matthieu Milh; Charles Perrine; Christian P Schaaf; Anne-Lise Poulat; Dorothee Ville; Tanner Hagelstrom; Denise L Perry; Ryan J Taft; Amy Goldstein; Arastoo Vossough; Ingo Helbig; Adeline Vanderver
Journal:  Pediatr Neurol       Date:  2020-03-11       Impact factor: 3.372

2.  A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.

Authors:  Nihan Hande Akçakaya; Barış Salman; Zeliha Görmez; Yelda Tarkan Argüden; Ayşe Çırakoğlu; Raif Çakmur; Berril Dönmez Çolakoğlu; Seniha Hacıhanefioğlu; Uğur Özbek; Zuhal Yapıcı; Sibel Aylin Uğur İşeri
Journal:  Neuromolecular Med       Date:  2019-01-05       Impact factor: 3.843

3.  Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.

Authors:  Kjersti Eline Stige; Ivar Otto Gjerde; Gunnar Houge; Per Morten Knappskog; Charalampos Tzoulis
Journal:  Clin Case Rep       Date:  2018-01-04

Review 4.  WDR45, one gene associated with multiple neurodevelopmental disorders.

Authors:  Yingying Cong; Vincent So; Marina A J Tijssen; Dineke S Verbeek; Fulvio Reggiori; Mario Mauthe
Journal:  Autophagy       Date:  2021-04-12       Impact factor: 16.016
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.