Phenotype expansion
Signs & symptoms
1 supporting source
confidence 97%
novelty 90%
New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.
Generated 2026-11-13, last changed
today. Dedup key expansion:0fea2e.
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)
A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.
peer_reviewed
· published 2012-05-14
· live page
For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| A complex microdeletion 17q12 phenotype in a patient with recurrent... | pubmed | 2012-05-14 | yesterday | 1.00 |