rs281875322
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.820
GeneticVariation
BEFREE
They both had de novo c.1498A > G (p.Ile500Val ) variant in SMAD4 and presented with key characteristics of Myhre syndrome but also revealed uncommon features (polydactyly in the girl and precocious puberty in the boy).
31654632
2020
rs281875322
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.820
GeneticVariation
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
rs281875322
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.820
GeneticVariation
UNIPROT
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
22243968
2012
rs281875322
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
G
0.820
CausalMutation
CLINVAR
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
rs281875322
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.820
GeneticVariation
UNIPROT
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
rs281875320
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.800
GeneticVariation
UNIPROT
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
22243968
2012
rs281875321
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.800
GeneticVariation
UNIPROT
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
22243968
2012
rs281875320
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.800
GeneticVariation
UNIPROT
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
rs281875320
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
G
0.800
CausalMutation
CLINVAR
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
rs281875321
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.800
GeneticVariation
UNIPROT
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
rs281875321
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
C
0.800
CausalMutation
CLINVAR
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
rs397518413
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.710
GeneticVariation
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
rs397518413
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
T
0.710
CausalMutation
CLINVAR
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
24424121
2014
rs397518413
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
T
0.710
CausalMutation
CLINVAR
Novel SMAD4 mutation causing Myhre syndrome.
24715504
2014
rs1555686624
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
C
0.700
CausalMutation
CLINVAR
rs377767347
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
A
0.700
CausalMutation
CLINVAR
rs80338965
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
T
0.700
CausalMutation
CLINVAR