Variant: rs387907306 

    present in Gene: SKI
    present in Chromosome: 1
    Position on Chromosome: 2228866
    Alleles of this Variant: G/A;T

rs387907306 in SKI gene and Dysmorphic features PMID 24736733 2015 The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

PMID 15884042 2005 Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

PMID 23023332 2012 Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

PMID 23103230 2012 In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

PMID 27146836 2016 Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

rs387907306 in SKI gene and Multiple congenital anomalies PMID 15884042 2005 Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

PMID 23023332 2012 Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

PMID 27146836 2016 Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

PMID 23103230 2012 In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

PMID 24736733 2015 The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

rs387907306 in SKI gene and Muscle hypotonia PMID 23023332 2012 Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

PMID 15884042 2005 Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

PMID 27146836 2016 Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

PMID 23103230 2012 In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

PMID 24736733 2015 The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

rs387907306 in SKI gene and Shprintzen-Goldberg syndrome PMID 23023332 2012 Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

PMID 23103230 2012 In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

PMID 24736733 2015 The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.