Variant: rs397518413 

    present in Gene: SMAD4
    present in Chromosome: 18
    Position on Chromosome: 51078294
    Alleles of this Variant: C/T

rs397518413 in SMAD4 gene and Dysmorphic features PMID 24398790 2014 SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

PMID 26420300 2015 Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

PMID 24424121 2014 Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

PMID 22585601 2012 Mutations of SMAD4 account for both LAPS and Myhre syndromes.

PMID 22243968 2012 A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 24715504 2014 Novel SMAD4 mutation causing Myhre syndrome.

PMID 27562837 2016 Natural history and life-threatening complications in Myhre syndrome and review of the literature.

PMID 22846733 2013 Genetic testing by cancer site: colon (polyposis syndromes).

PMID 22158539 2011 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

PMID 15031030 2004 A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

PMID 16613914 2006 SMAD4 mutations found in unselected HHT patients.

PMID 17873119 2007 High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

rs397518413 in SMAD4 gene and Juvenile polyposis syndrome PMID 24398790 2014 SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

PMID 24424121 2014 Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

PMID 24715504 2014 Novel SMAD4 mutation causing Myhre syndrome.

rs397518413 in SMAD4 gene and Myhre syndrome PMID 24715504 2014 Novel SMAD4 mutation causing Myhre syndrome.

PMID 24424121 2014 Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

rs397518413 in SMAD4 gene and Neoplastic Syndromes, Hereditary PMID 24580733 2014 Myhre syndrome.

PMID 24715504 2014 Novel SMAD4 mutation causing Myhre syndrome.

PMID 24841914 2014 Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome.

PMID 24424121 2014 Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

PMID 24398790 2014 SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.