Emberger syndrome
id:
emberger-syndrome-251-17808878
title:
Emberger syndrome
text:
The Emberger syndrome is a rare, autosomal dominant, genetic disorder caused by familial or sporadic inactivating mutations in one of the two parental GATA2 genes. The mutation results in a haploinsufficiency in the levels of the gene's product, the GATA2 transcription factor. This transcription factor is critical for the embryonic development, maintenance, and functionality of blood-forming, lympathic-forming, and other tissues. The syndrome includes as its primary symptoms: serious abnormaliti
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Emberger_syndrome
date created:
date modified:
2021-09-25T15:05:22Z
main entity:
{"identifier":"Q55610804","url":"https://www.wikidata.org/entity/Q55610804"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/4/4e/Autosomal_dominant_-_en.svg","width":738,"height":1260}
fields total:
13
integrity:
15