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Application of Combined PGT-A and PGT-M for Reproductive Management in a Couple Carrying GCDH Mutations with Prior Affected Offspring: A Rare Case Report

2025-09-30

Abstract excerpt

<title>Abstract</title> <p><bold>Case</bold> A 31-year-old woman with secondary subfertility, four recurrent pregnancy losses, and one previous live-born child affected with glutaric acidemia type I (GA-I) was evaluated. Genetic testing confirmed that both partners were heterozygous carriers of pathogenic <italic>GCDH</italic> variants (c.769C>T in exon 8 and c.1204C>T in exon 11, NM_000159.4). Given the high rec...

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Literature Corpus work
902b62f2-982b-565c-b629-6a35616b3994
DOI
10.21203/rs.3.rs-7727998/v1
Open publication

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Application of Combined PGT-A and PGT-M for Reproductive Management in a Couple Carrying GCDH Mutations with Prior Affected Offspring: A Rare Case ReportDOI 10.21203/rs.3.rs-7727998/v1
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