17q12 Knowledge Basedeletion syndrome · static snapshot
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New publication How it is diagnosed 1 supporting source confidence 97% novelty 75%

Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis

Edited by: Jordi Pérez-Tur , Spanish National Research Council (CSIC), Spain Reviewed by: Cristina Skrypnyk , Arabian Gulf University, Bahrain Angie Jelin , Johns Hopkins University, United States These authors have contributed equally to this work Background Fetal hyperechoic kidney is an important soft marker in prenatal ultrasonography; however, the causes of this phenomenon are unclear.

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:353. 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)

WES results Among the 94 fetuses with hyperechoic kidneys, 13 cases with normal conventional karyotype and CMA results were further subjected to WES; two cases of pathogenic mutations and one likely pathogenic gene mutation involving genes, HNF1B , NPHP3 , and KMT2D , were identified ( Tables 3 , 4 ).

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Genetic etiology and pregnancy outcomes of fetal hyperechoic kidney... pmc 2025-01-01 yesterday 1.00