The mutational spectrum of fibroblast growth factor receptor 3 (FGFR3) in individuals with achondroplasia. In humans, the mutations associated with achondroplasia patients are mainly located in ...

A recent publication in Genes & Diseases has delivered a compelling synthesis of the latest insights into the cellular ...

A landmark review in Nature Reviews Genetics dissects the rare and common genetic variants that shape human height. The paper explains how monogenic and polygenic factors converge on key growth ...

Achondroplasia is a rare genetic disorder of bone growth that causes short-limbed dwarfism. It occurs due to mutations in a single gene called the FGFR3.

and Aggrecan mutations – but data on these subgroups is not yet available. The incidence of hypochondroplasia is not known, but it has been estimated to be about as common as achondroplasia ...

TransCon CNP is an investigational prodrug of C-type natriuretic peptide (CNP) administered once weekly and designed to treat individuals with achondroplasia by providing continuous exposure of ...

TAIPEI (Taiwan News) — The National Health Insurance Administration passed a decision on Friday to include a new treatment for the rare disease achondroplasia, a type of dwarfism, in its coverage. The ...

A recent publication in Genes & Diseases has delivered a compelling synthesis of the latest insights into the cellular ...