Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: For the first time, we delineated and described the smallest minimal critical region, including the single BDH…
A source describes a new or expanded observation: “For the first time, we delineated and described the smallest minimal critical region, including the single BDH1 gene; in our patients, this region was associated with ASD, heart defects, biliary tract dysfunction, and obesity.”
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:8b2c03.
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)
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1 Duplications
peer_reviewed
· published 2024-01-01
· live page
For the first time, we delineated and described the smallest minimal critical region, including the single BDH1 gene; in our patients, this region was associated with ASD, heart defects, biliary tract dysfunction, and obesity.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Delineation of the Genetic Architecture and Clinical Polymorphism o... | pmc | 2024-01-01 | yesterday | 1.00 |