ArticleFrontiers in pediatrics2025
Case Report: Compound heterozygous variants in
Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: The Methods: We performed Exome sequencing (ES) on a fetus with severe limb malformations and renal anomalies, along with the parents. Sanger sequencing was used to validate the identified variants. Evolutionary conservation analysis and structural predictions using AlphaFold were conducted to assess the functional impact of the variants. Protein-protein interaction networks were generated using the STRING database to explore potential functional partners of BHLHA9. Results: The proband exhibited multicystic dysplasia of the left kidney, an accessory renal artery, bilateral hand anomalies (four fingers with absent thumbs), bilateral foot syndactyly, and a facial scar. ES identified two novel compound heterozygous variants in the Conclusions: This study identifies novel compound heterozygous variants in the
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