An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
about
Genes and molecular pathways underpinning ciliopathies.An essential role of intestinal cell kinase in lung development is linked to the perinatal lethality of human ECO syndrome.A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development.Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.
P2860
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
An inactivating mutation in in ...... hort rib-polydactyly syndrome.
@en
An inactivating mutation in in ...... hort rib-polydactyly syndrome.
@nl
type
label
An inactivating mutation in in ...... hort rib-polydactyly syndrome.
@en
An inactivating mutation in in ...... hort rib-polydactyly syndrome.
@nl
prefLabel
An inactivating mutation in in ...... hort rib-polydactyly syndrome.
@en
An inactivating mutation in in ...... hort rib-polydactyly syndrome.
@nl
P2093
P2860
P50
P356
P1476
An inactivating mutation in in ...... short rib-polydactyly syndrome
@en
P2093
Ales Hampl
Daniel H Cohn
Deborah Krakow
Deborah Nickerson
Iva Jelinkova
Jieun Song
Jorge H Martin
Kimberly N Forlenza
Lukas Balek
Margie L Jaworski
P2860
P304
P356
10.1093/HMG/DDW240
P577
2016-07-27T00:00:00Z