Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.
about
Expansion of the RASopathies1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism.7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case.Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability.Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
P2860
Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.
description
2014 nî lūn-bûn
@nan
2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Rare copy number variations co ...... OC2 and duplication of PTPN11.
@ast
Rare copy number variations co ...... OC2 and duplication of PTPN11.
@en
type
label
Rare copy number variations co ...... OC2 and duplication of PTPN11.
@ast
Rare copy number variations co ...... OC2 and duplication of PTPN11.
@en
prefLabel
Rare copy number variations co ...... OC2 and duplication of PTPN11.
@ast
Rare copy number variations co ...... OC2 and duplication of PTPN11.
@en
P2093
P2860
P356
P1476
Rare copy number variations co ...... OC2 and duplication of PTPN11.
@en
P2093
Jin-Lan Chen
Tian-Li Zhao
Yi-Feng Yang
Zhi-Ping Tan
P2860
P2888
P356
10.1186/1755-8166-7-28
P577
2014-04-16T00:00:00Z