|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
|
26590800 |
2016 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
|
25472840 |
2014 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
CHD7 gene polymorphisms and familial idiopathic scoliosis.
|
23883829 |
2013 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
|
22495309 |
2012 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Mutation update on the CHD7 gene involved in CHARGE syndrome.
|
22461308 |
2012 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
|
22539353 |
2012 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
|
21532573 |
2011 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
|
21378379 |
2011 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
CHD7 cooperates with PBAF to control multipotent neural crest formation.
|
20130577 |
2010 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
|
20186815 |
2010 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
|
18834967 |
2008 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
|
17661815 |
2007 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
CHARGE syndrome: an update.
|
17299439 |
2007 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
|
16155193 |
2006 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
|
16400610 |
2006 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Updated diagnostic criteria for CHARGE syndrome: a proposal.
|
15666308 |
2005 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
|
15300250 |
2004 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies.
|
14626219 |
2003 |
|
rs1554588675
|
|
Dysmorphic features
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
CHARGE Association in newborns: a registry-based study.
|
10590394 |
1999 |