De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

Item
http://www.wikidata.org/entity/Q38844455
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.Identification of novel candidate disease genes from de novo exonic copy number variants.Identification of genes expressed in a mesenchymal subset regulating prostate organogenesis using tissue and single cell transcriptomics.Monogenic disorders that mimic the phenotype of Rett syndrome.Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.A commentary on de novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
P2860

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

Item
http://www.wikidata.org/entity/Q38844455
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
De novo MEIS2 mutation causes ...... tent gastro-esophageal reflux.
@en
type
label
De novo MEIS2 mutation causes ...... tent gastro-esophageal reflux.
@en
prefLabel
De novo MEIS2 mutation causes ...... tent gastro-esophageal reflux.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
De novo MEIS2 mutation causes ...... tent gastro-esophageal reflux.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698