Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes

INTRODUCTION: In this study we describe a patient with gross deletion containing the BTK and TIMM8A genes. Mutations in these genes are responsible for X-linked agammaglobulinemia and Mohr-Tranebjaerg syndrome, respectively. X linked agammaglobulinemia is a rare primary immunodeficiency characterize...

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書誌詳細
出版年:Cent Eur J Immunol
主要な著者: Szaflarska, Anna, Rutkowska-Zapała, Magdalena, Gruca, Anna, Szewczyk, Katarzyna, Bik-Multanowski, Mirosław, Lenart, Marzena, Surman, Marta, Kopyta, Ilona, Głuszkiewicz, Ewa, Machnikowska-Sokołowska, Magdalena, Gruszczyńska, Katarzyna, Pituch-Noworolska, Anna, Siedlar, Maciej
フォーマット: Artigo
言語:Inglês
出版事項: Polish Society of Experimental and Clinical Immunology 2018
主題:
Clinical Immunology
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6102625/
https://ncbi.nlm.nih.gov/pubmed/30135625
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5114/ceji.2018.77383
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