TY  - GEN
AU  - Le Goff,Carine
AU  - Morice-Picard,Fanny
AU  - Dagoneau,Nathalie
AU  - Wang,Lauren W
AU  - Perrot,Claire
AU  - Crow,Yanick J
AU  - Bauer,Florence
AU  - Flori,Elisabeth
AU  - Prost-Squarcioni,Catherine
AU  - Krakow,Deborah
AU  - Ge,Gaoxiang
AU  - Greenspan,Daniel S
AU  - Bonnet,Damien
AU  - Le Merrer,Martine
AU  - Munnich,Arnold
AU  - Apte,Suneel S
AU  - Cormier-Daire,Valérie
TI  - ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation
SN  - 1061-4036
PY  - 2009///0209
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Biological Availability
KW  - Cell Line
KW  - Child
KW  - Child, Preschool
KW  - Extracellular Matrix Proteins
KW  - Growth Disorders
KW  - Hand Deformities, Congenital
KW  - Heart Defects, Congenital
KW  - Heart Valves
KW  - abnormalities
KW  - Humans
KW  - Mutation
KW  - Transforming Growth Factor beta
KW  - metabolism
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng.199
ER  -