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Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria

Herein, we report a conceptually novel clinical case highlighting the diagnostic implications of excessive homozygosity and its correlation with brain MRI abnormalities in an infant with GA1. The case also points a need for an extra amount of caution to be exercised when evaluating patients with “ne...

詳細記述

保存先:
書誌詳細
出版年:Clin Case Rep
主要な著者: Peer‐Zada, Abdul Ali, Al‐Asmari, Ali M.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2017
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5538054/
https://ncbi.nlm.nih.gov/pubmed/28781846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1054
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