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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...
שמור ב:
| הוצא לאור ב: | Clin Case Rep |
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| Main Authors: | , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
John Wiley and Sons Inc.
2017
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| נושאים: | |
| גישה מקוונת: | 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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