Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria.
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ABSTRACT:
SUBMITTER: Peer-Zada AA
PROVIDER: S-EPMC5538054 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
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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.
Peer-Zada Abdul Ali AA Al-Asmari Ali M AM
Clinical case reports 20170628 8
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 "negative exomes." ...[more]
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