Ribosomopathies are a group of rare diseases in which genetic mutations cause defects in
either ribosome biogenesis or function, given specific phenotypes. Ribosomal proteins, and …

The cartilage-hair hypoplasia–anauxetic dysplasia (CHH-AD) spectrum disorders are a
continuum that includes the following phenotypes: Metaphyseal dysplasia without …

摘要目的: 探讨生长激素(growth hormone, GH) 对实验大鼠牙齿移动过程中血管内皮生长因子(
vascular endothelial growth factor, VEGF) 在牙周组织中表达的影响. 方法: 将40 只7 …

Ribosomopathies are rare congenital disorders associated with defective ribosome
biogenesis due to pathogenic variations in genes that encode proteins related to ribosome …

Results: Cartilage-Hair Hypoplasia characterized by short-limb dwarfism associated with
metaphyseal chondrodysplasia. The inheritance is autosomal recessive. Other findings …

Introduction: Skeletal dysplasias, also termed as osteochondrodysplasias, are a large
heterogeneous group of disorders characterized by abnormalities of bone or cartilage …

Rusto-hiushypoplasia on suomalaiseen tautiperintöön kuuluva harvinainen sairaus, johon
liittyy lyhytkasvuisuus ja immuunivaje. Rusto-hiushypoplasiapotilaiden kuolleisuus on …

We herein report a rare case of cartilage-hair hypoplasia (CHH) complicated with liver
cirrhosis. A 20-year-old Japanese man with CHH was found incidentally to have liver …

Healthy cartilage is essential during walking and sports. Because cartilage has no blood
circulation, it has virtually no recovery capacity. Cartilage wear and tear is therefore an …