Phenotype expansion
Research frontier
1 supporting source
confidence 97%
novelty 90%
New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared the phenotypes of carriers of reciprocal m”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.
Generated 2026-11-13, last changed
today. Dedup key expansion:469d18.
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
Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared the phenotypes of carriers of reciprocal microdeletions and microduplications at the 3q29 locus.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Delineation of the Genetic Architecture and Clinical Polymorphism o... | pmc | 2024-01-01 | yesterday | 1.00 |