17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the …

A source describes a new or expanded observation: “This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the prevalence of common and rare subtypes, and to report novel pathogenic variants identified in a Turkish cohort.”

More phenotype expansion

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.

Generated 2026-11-13, last changed yesterday. Dedup key expansion:5819a9. 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)

Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience peer_reviewed · published 2025-01-01 · live page
This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the prevalence of common and rare subtypes, and to report novel pathogenic variants identified in a Turkish cohort.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Revealing Monogenic Diabetes: Clinical and Genetic Features of Pedi... pmc 2025-01-01 yesterday 1.00