Phenotype expansion
Signs & symptoms
1 supporting source
confidence 97%
novelty 90%
New observation reported: S., "A Novel Mutation of HOXA13 in a Family With Hand‐Foot‐Genital Syndrome and the Role of Polyalanine Expans…
A source describes a new or expanded observation: “S., "A Novel Mutation of HOXA13 in a Family With Hand‐Foot‐Genital Syndrome and the Role of Polyalanine Expansions in the Spectrum of Müllerian Fusion Anomalies," Fertility and Sterility 94, no.”
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:787d2a.
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)
The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review
peer_reviewed
· published 2025-01-01
· live page
S., "A Novel Mutation of HOXA13 in a Family With Hand‐Foot‐Genital Syndrome and the Role of Polyalanine Expansions in the Spectrum of Müllerian Fusion Anomalies," Fertility and Sterility 94, no.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review | pmc | 2025-01-01 | yesterday | 1.00 |