Char syndrome
id:
char-syndrome-287-11004874
title:
Char syndrome
text:
Char syndrome is an autosomal dominant congenital disease caused by mutations in TFAP2B gene which affects the development of the bones of the face as well as the heart and limbs. During embryo development, TFAP2B regulates the production of the protein AP-2β, a transcription factor that is active in the neural crest and helps regulate genes that control cell division and apoptosis. There are at least 10 mutations of this gene that have been identified in people presenting Char syndrome, which a
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Char_syndrome
date created:
date modified:
2023-01-29T07:33:06Z
main entity:
{"identifier":"Q2411095","url":"https://www.wikidata.org/entity/Q2411095"}
image:
fields total:
13
integrity:
14