Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function
about
Motile and non-motile cilia in human pathology: from function to phenotypes.Primary Cilia and Mammalian Hedgehog Signaling.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms.Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
P2860
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function
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
Mutations in human C2CD3 cause ...... nces of altered C2CD3 function
@ast
Mutations in human C2CD3 cause ...... nces of altered C2CD3 function
@en
type
label
Mutations in human C2CD3 cause ...... nces of altered C2CD3 function
@ast
Mutations in human C2CD3 cause ...... nces of altered C2CD3 function
@en
prefLabel
Mutations in human C2CD3 cause ...... nces of altered C2CD3 function
@ast
Mutations in human C2CD3 cause ...... nces of altered C2CD3 function
@en
P2093
P2860
P50
P356
P1433
P1476
Mutations in human C2CD3 cause ...... nces of altered C2CD3 function
@en
P2093
Andreas Zankl
Jessica E Harris
Lisa K Anderson
Maria C Rondón Galeano
Mette Ramsing
Patricia A Keith
Paul J Leo
P2860
P2888
P356
10.1038/SREP24083
P407
P577
2016-04-20T00:00:00Z