Bowen–Conradi syndrome
id:
bowen-conradi-syndrome-262-13702393
title:
Bowen–Conradi syndrome
text:
Bowen–Conradi syndrome is a disease in humans that can affect children. The disease is due to an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly. The preponderance of diagnoses has been in North American Hutterite children, but BWCNS can affect other population groups. BWCNS is a ribosomopathy. A D86G mutation of EMG1 destroys an EcoRV restriction endonuclease site in the most highly conserved region of the protein. Skeletal dysmorph
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Bowen%E2%80%93Conradi_syndrome
date created:
date modified:
2024-01-05T21:09:02Z
main entity:
{"identifier":"Q18553398","url":"https://www.wikidata.org/entity/Q18553398"}
image:
fields total:
13
integrity:
14