Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
about
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings.Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development.
P2860
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
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
Targeted resequencing identifi ...... ds the SOX2 regulatory network
@ast
Targeted resequencing identifi ...... ds the SOX2 regulatory network
@en
type
label
Targeted resequencing identifi ...... ds the SOX2 regulatory network
@ast
Targeted resequencing identifi ...... ds the SOX2 regulatory network
@en
prefLabel
Targeted resequencing identifi ...... ds the SOX2 regulatory network
@ast
Targeted resequencing identifi ...... ds the SOX2 regulatory network
@en
P2093
P2860
P50
P356
P1433
P1476
Targeted resequencing identifi ...... ds the SOX2 regulatory network
@en
P2093
Adrienne R Niederriter
Alexandre Causse
Annaïck Desmaison
Catherine Vincent-Delorme
Christine Coubes
Erica E Davis
Helene Dollfus
Jean-Louis Dufier
Kelly L McKnight
Laurent Pasquier
P2860
P304
P356
10.1101/GR.196048.115
P577
2016-02-18T00:00:00Z