Le Goff, Carine

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. [electronic resource] - Nature genetics Sep 2008 - 1119-23 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1061-4036

10.1038/ng.199 doi


Abnormalities, Multiple--genetics
Biological Availability
Cell Line
Child
Child, Preschool
Extracellular Matrix Proteins--genetics
Growth Disorders--genetics
Hand Deformities, Congenital--genetics
Heart Defects, Congenital--genetics
Heart Valves--abnormalities
Humans
Mutation
Transforming Growth Factor beta--metabolism