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Author

Hélio R. Oliveira

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Oct 2026

B-308 Multigenerational Consanguinity and Genomic Absence of Heterozygosity (AOH) Burden: A Case Report

A case of a third-degree consanguineous patient presenting a genomic AOH burden approaching that expected for first-degree consanguinity is reported, highlighting the influence of multigenerational consanguinity on increased constitutional homozygosity, with potential implications for the expression of autosomal recess...

S. Tufik, M. Souza, Hélio R. Oliveira et al. · 0 citations

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