|
| Entrez Id: |
4774 |
| Gene Symbol: |
NFIA |
NFIA
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
Truncating mutation in NFIA causes brain malformation and urinary tract defects.
|
27081522 |
2015 |
|
| Entrez Id: |
4774 |
| Gene Symbol: |
NFIA |
NFIA
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.
|
24657733 |
2015 |
|
| Entrez Id: |
4774 |
| Gene Symbol: |
NFIA |
NFIA
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
|
24462883 |
2014 |
|
| Entrez Id: |
4774 |
| Gene Symbol: |
NFIA |
NFIA
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
|
24098143 |
2013 |
|
| Entrez Id: |
4774 |
| Gene Symbol: |
NFIA |
NFIA
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
|
| Entrez Id: |
4774 |
| Gene Symbol: |
NFIA |
NFIA
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
De novo gene disruptions in children on the autistic spectrum.
|
22542183 |
2012 |
|
| Entrez Id: |
4774 |
| Gene Symbol: |
NFIA |
NFIA
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
|
22301465 |
2012 |
|
| Entrez Id: |
4774 |
| Gene Symbol: |
NFIA |
NFIA
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.
|
19763616 |
2010 |
|
| Entrez Id: |
4774 |
| Gene Symbol: |
NFIA |
NFIA
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
|
20673863 |
2010 |
|
| Entrez Id: |
4774 |
| Gene Symbol: |
NFIA |
NFIA
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
Nuclear factor one transcription factors in CNS development.
|
19058033 |
2009 |
|
| Entrez Id: |
4774 |
| Gene Symbol: |
NFIA |
NFIA
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
|
17530927 |
2007 |
|
| Entrez Id: |
4774 |
| Gene Symbol: |
NFIA |
NFIA
|
Dysmorphic features
|
0.110 |
CausalMutation |
CLINVAR |
Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.
|
10518556 |
1999 |