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...

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Detalles Bibliográficos
Autores principales: Peer‐Zada, Abdul Ali, Al‐Asmari, Ali M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538054/
https://www.ncbi.nlm.nih.gov/pubmed/28781846
http://dx.doi.org/10.1002/ccr3.1054

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538054/
https://www.ncbi.nlm.nih.gov/pubmed/28781846
http://dx.doi.org/10.1002/ccr3.1054

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