Achondroplasia (MIM 100800) is the most common non-lethal skeletal dysplasia. Its
incidence is between one in 10 000 and one in 30 000. The phenotype is characterized by …

Achondroplasia (ACH), the most common form of dwarfism, is an inherited autosomal-
dominant chondrodysplasia caused by a gain-of-function mutation in fibroblast-growth-factor …

Achondroplasia (ACH) is the most frequent form of dwarfism and is caused by gain-of-
function mutations in the fibroblast growth factor receptor 3–encoding (FGFR3-encoding) …

DNA polymerase ε (Polε) is a large, four-subunit polymerase that is conserved throughout
the eukaryotes. Its primary function is to synthesize DNA at the leading strand during …

Fibroblast growth factor receptor 3 (FGFR3) gain-of-function mutations cause dwarfisms,
including achondroplasia (ACH) and thanatophoric dysplasia (TD). The constitutive …

Activating germline fibroblast growth factor receptor 3 (FGFR3) mutations cause
achondroplasia (ACH), the most common form of human dwarfism and a spectrum of …

Achondroplasia is a rare autosomal dominant genetic disease. Research on achondroplasia
in China, however, has received little emphasis. Around 80-90% of cases of neonatal …

Endochondral ossification is the process by which the appendicular skeleton, facial bones,
vertebrae and medial clavicles are formed and relies on the tight control of chondrocyte …

La presente Tesis Doctoral recoge herramientas de análisis, purificación y evaluación de la
bioactividad de los compuestos fenólicos presentes en distintas especies vegetales, así …

Achondroplasia (ACH) is the most common pathology of the group of disorders called
chondrodysplasias. It is resulting from a mutation in the Fibroblast Growth Factor Receptor …