17q12 Knowledge Basedeletion syndrome · static snapshot
Adults Scientists Kids EN NL
All content was collected from public internet sources and processed with the help of AI/LLM software. This site is informative only — do not draw conclusions; verify with the original sources. Full disclaimer
Phenotype expansion Signs & symptoms 1 supporting source confidence 97% novelty 90%

New observation reported: Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX…

A source describes a new or expanded observation: “Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX1 mutation screening in 112 MA patients and CNV analysis in a subset of them.”

More phenotype expansion

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:59f1f8. 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
Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX1 mutation screening in 112 MA patients and CNV analysis in a subset of them.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. pubmed 2018-01-01 yesterday 1.00