资讯

Nature1 年
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome | Nature ...
Keutel syndrome (KS, MIM 245150) is an autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and midfacial hypoplasia1. A genome search ...
Nature11 年
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa ...
Other syndromes with neurological symptoms include, for example, Keutel syndrome, a disorder with hearing loss, cartilaginous ossification and intellectual disability and mild CL (MIM 245150 ...
EurekAlert!1 年
Discovery unravels the mystery of a rare bone | EurekAlert!
If MGP is completely missing, it can lead to Keutel syndrome, a rare condition where tissues become calcified, causing issues in the skeleton and blood vessels. However, ...
Medical Xpress1 年
Discovery unravels the mystery of a rare bone disease - Medical Xpress
MGP is a special protein found in blood vessels and cartilage that helps prevent the hardening of these tissues in the body. If MGP is completely missing, it can lead to Keutel syndrome, a rare ...
technologynetworks1 年
Researchers Identify Gene That Causes Rare Skeletal Disorder
If MGP is completely missing, it can lead to Keutel syndrome, a rare condition where tissues become calcified, causing issues in the skeleton and blood vessels. However, in this case, the variance in ...
News Medical1 年
New discovery sheds light on the genetic basis of a rare skeletal disorder - News-Medical.net
If MGP is completely missing, it can lead to Keutel syndrome, a rare condition where tissues become calcified, causing issues in the skeleton and blood vessels. However, ...
technologynetworks1 年
Researchers Identify Gene That Causes Rare Skeletal Disorder
A McGill-led team of researchers have made an important discovery shedding light on the genetic basis of a rare skeletal disorder. The study, published in Nature Communications, reveals that a defect ...