17q12 Knowledge Basedeletion syndrome · static snapshot
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New publication Genes & inheritance 1 supporting source confidence 97% novelty 75%

Exome analysis links kidney malformations to developmental disorders and reveals causal genes

Further information on research design is available in the Nature Portfolio Reporting Summary linked to this article. Methods Written informed consent was obtained from all participants recruited for this study or, where applicable, from their legal guardians prior to participation in this study.

How this was derived

Indexed from **pmc** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:359. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder share underlying genetic mechanisms and pathways and point to the potential for phenotypic expansion for known and yet-to-be-identified developmental disorders.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Exome analysis links kidney malformations to developmental disorder... pmc 2025-01-01 yesterday 1.00