|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Natural history and life-threatening complications in Myhre syndrome and review of the literature.
|
27562837 |
2016 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.
|
26420300 |
2015 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
|
24424121 |
2014 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.
|
24398790 |
2014 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Novel SMAD4 mutation causing Myhre syndrome.
|
24715504 |
2014 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Genetic testing by cancer site: colon (polyposis syndromes).
|
22846733 |
2013 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Mutations of SMAD4 account for both LAPS and Myhre syndromes.
|
22585601 |
2012 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Clinical application of exome sequencing in undiagnosed genetic conditions.
|
22581936 |
2012 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
|
22243968 |
2012 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
|
22158539 |
2011 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
|
17873119 |
2007 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
SMAD4 mutations found in unselected HHT patients.
|
16613914 |
2006 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
|
15031030 |
2004 |