Zaki syndrome
id:
zaki-syndrome-245-240875
title:
Zaki syndrome
text:
Zaki syndrome is a syndrome characterized by microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, coloboma, and heart defects. It is caused by a homozygous missense mutation in the WLS gene on the short arm of chromosome 1 in humans (1p31.3), which encodes the Wnt ligand secretion mediator, also known as Wntless. The mutation was identified in 10 persons from 5 unrelated families and the syndrome was published for the first time in September 2021 in the New England Journa
brand slug:
wiki
category slug:
encyclopedia
description:
A rare genetic syndrome caused by a mutation in WLS gene
original url:
https://en.wikipedia.org/wiki/Zaki_syndrome
date created:
date modified:
2024-01-13T03:10:16Z
main entity:
{"identifier":"Q108842750","url":"https://www.wikidata.org/entity/Q108842750"}
image:
fields total:
13
integrity:
14