Phenotype expansion
Signs & symptoms
1 supporting source
confidence 97%
novelty 90%
New observation reported: Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a …
A source describes a new or expanded observation: “Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a role also for TBX6 in the complex genetics of MA, and therefore in the development of the female reproductive system.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.
Generated 2026-11-13, last changed
yesterday. Dedup key expansion:0b2624.
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)
Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.
peer_reviewed
· published 2018-01-01
· live page
Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a role also for TBX6 in the complex genetics of MA, and therefore in the development of the female reproductive system.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. | pubmed | 2018-01-01 | yesterday | 1.00 |