17q12, explained for kidsdeletion syndrome · static snapshot
Adults Scientists Kids EN NL
Everything here was found on the internet and put together with help from a computer program that reads and writes (AI). It is here so you can learn — it is not the final word. Always check the real source. Read the whole notice
Something new reported Kidneys and diabetes 1 supporting source confidence 97% novelty 90%

Someone reported something new: Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agene…

A source describes a new or expanded observation: “Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.”

More something new reported

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:5891d0. 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)

Mayer–Rokitansky–Küster–Hauser syndrome with inguinal hernia, left renal fusion, and malrotation: a rare case peer_reviewed · published 2025-01-01 · live page
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Mayer–Rokitansky–Küster–Hauser syndrome with inguinal hernia, left ... pmc 2025-01-01 yesterday 1.00