Myhre syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inactivation of Smad4 leads to impaired ocular development and cataract formation.
|
20735985 |
2010 |
Myhre syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome.
|
22158539 |
2011 |
Myhre syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome.
|
22158539 |
2011 |
Myhre syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome.
|
22158539 |
2011 |
Myhre syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome.
|
22158539 |
2011 |
Myhre syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome.
|
22158539 |
2011 |
Myhre syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome.
|
22158539 |
2011 |
Myhre syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
|
22243968 |
2012 |
Myhre syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Myhre syndrome is a very rare condition described thirty years ago and related to mutations in the SMAD4 gene.
|
22683461 |
2012 |
Myhre syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The thick calvarium and thick skin were clues to the clinical diagnosis of MS. A heterozygous mutation in the mothers-against-DPP homolog 4 (SMAD4) gene has been reported to cause MS. We sequenced SMAD4 using standard PCR-based technique and identified a recurrent mutation (p.Ile500 Thr).
|
22711472 |
2012 |
Myhre syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
|
22243968 |
2012 |
Myhre syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.
|
24398790 |
2014 |
Myhre syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel SMAD4 mutation causing Myhre syndrome.
|
24715504 |
2014 |
Myhre syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
Myhre syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel SMAD4 mutation causing Myhre syndrome.
|
24715504 |
2014 |
Myhre syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel SMAD4 mutation causing Myhre syndrome.
|
24715504 |
2014 |
Myhre syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
|
24424121 |
2014 |
Myhre syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Finally, the absence of SMAD4 mutations in three MS cases may support genetic heterogeneity.
|
24580733 |
2014 |
Myhre syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to review the features of Myhre and LAPS patients to define the clinical spectrum of SMAD4 mutations.
|
24424121 |
2014 |
Myhre syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.
|
24398790 |
2014 |
Myhre syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Finally, the absence of SMAD4 mutations in three MS cases may support genetic heterogeneity.
|
24580733 |
2014 |
Myhre syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Myhre syndrome (OMIM 139210) is a rare developmental disorder inherited as an autosomal dominant trait and caused by a narrow spectrum of missense mutations in the SMAD4 gene.
|
27562837 |
2016 |
Myhre syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
|
27302097 |
2016 |
Myhre syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a 2-year-old girl diagnosed with Myhre syndrome by whole exome sequencing (WES) that revealed the recurrent p.Ile500Val mutation in the SMAD4 gene.
|
29230941 |
2018 |
Myhre syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report on four novel patients (one female proband and her two affected children, and one male proband) with Myhre syndrome harboring the recurrent c.1486C>T (p.Arg496Cys) mutation in SMAD4.
|
31595668 |
2019 |