Björnstad syndrome
id:
bj-rnstad-syndrome-306-3496747
title:
Björnstad syndrome
text:
Björnstad syndrome is an autosomal recessive congenital condition involving pili torti, sensorineural deafness, and hair abnormalities. It was first characterized in 1965, in Oslo, by prof. Roar Theodor Bjørnstad after he observed an association between pili torti and hearing loss. The condition is extremely rare, with less than 50 cases documented in medical literature worldwide. Björnstad syndrome is caused by mutations of the BCS1L gene. The protein product of this gene is BCS1L, which plays
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Bj%C3%B6rnstad_syndrome
date created:
date modified:
2023-10-27T14:51:30Z
main entity:
{"identifier":"Q4919794","url":"https://www.wikidata.org/entity/Q4919794"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/4/46/Autosomal_recessive_-_mini.svg","width":1201,"height":1561}
fields total:
13
integrity:
15