×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
BEFREE
Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.
31574590
2019
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
BEFREE
Malan syndrome due to shared NFIX variants was diagnosed in the brothers using exome sequencing.
31369202
2019
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
BEFREE
Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome ), a syndromic form of intellectual disability associated with overgrowth and macrocephaly.
29184170
2018
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
BEFREE
We report a 3-year- 6 months- old female with clinical features suggestive of Malan syndrome with mutation in exon 2 of NFIX gene.
30548146
2018
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
BEFREE
Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2.
29897170
2018
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
CausalMutation
disease
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GermlineCausalMutation
disease
ORPHANET
We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported.
25118028
2015
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
Biomarker
disease
BEFREE
We then propose to consider this overgrowth syndrome (namely Malan syndrome ) and Marshall-Smith syndrome NFIX -related diseases.
26193383
2015
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
BEFREE
We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported.
25118028
2015
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
Biomarker
disease
GENOMICS_ENGLAND
We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported.
25118028
2015
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
BEFREE
We identified three female patients with 19p13.2 deletions involving NFIX , a gene responsible for Malan syndrome .
25736188
2015
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
UNIPROT
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
26200704
2015
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
CLINVAR
We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported.
25118028
2015
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
UNIPROT
We then propose to consider this overgrowth syndrome (namely Malan syndrome ) and Marshall-Smith syndrome NFIX -related diseases.
26193383
2015
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
BEFREE
Recently, heterozygous mutations in the NFIX gene (Nuclear Factor I, X type) on chromosome 19p13.3 were identified in a few children with the Sotos syndrome phenotype: Sotos syndrome 2 .
25345081
2014
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
CausalMutation
disease
CLINVAR
DIAMUND: direct comparison of genomes to detect mutations.
24375697
2014
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GermlineCausalMutation
disease
ORPHANET
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
22301465
2012
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
UNIPROT
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
22301465
2012
×
Entrez Id:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
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:
4784
Gene Symbol:
NFIX
NFIX
0.790
Biomarker
disease
GENOMICS_ENGLAND
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:
4784
Gene Symbol:
NFIX
NFIX
0.790
GermlineCausalMutation
disease
ORPHANET
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:
4784
Gene Symbol:
NFIX
NFIX
0.790
GeneticVariation
disease
UNIPROT
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:
4784
Gene Symbol:
NFIX
NFIX
0.790
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.010
GeneticVariation
disease
BEFREE
Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.
31574590
2019