Literature DB >> 27307113

Lessons from a pair of siblings with BPAN.

Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola, Annette Vertino-Bell, G Bradley Schaefer, Michael C Kruer.   

Abstract

Year:  2016        PMID： 27307113      PMCID： PMC5070908          DOI： 10.1038/ejhg.2015.274

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  3 in total

1.  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

2.  De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.

Authors:  Xiaojun Tang; Xiaoping Lan; Xiaozhen Song; Wuhen Xu; Yuanfeng Zhang; Hong Zhang; Shengnan Wu
Journal:  Mol Genet Genomic Med       Date:  2020-10-10       Impact factor: 2.183

3.  WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype.

Authors:  Leonora Kulikovskaja; Adrijan Sarajlija; Dusanka Savic-Pavicevic; Valerija Dobricic; Christine Klein; Ana Westenberger
Journal:  Neurol Genet       Date:  2018-03-27
  3 in total

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