achondroplasia

n.

软骨发育不全；

1. Like most achondroplasia dwarfs, I have two average-height parents, as well as an average-height brother.
   像大多数患有软骨发育不全症的侏儒一样，我的父母身高正常，我的兄弟也很正常。
2. Energetic as Wan-yu is, she suffers from achondroplasia and is destined never to grow to an average size.
   尽管婉榆活泼好动，她却患有软骨发育不全症，注定无法长到正常人的身高。

Achondroplasia.
Achondroplasia.
[ACHONDROPLASIA]
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficien...
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, ...