rs397515417
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
|
26671848 |
2016 |
rs397515417
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cornelia de Lange syndrome.
|
25209348 |
2015 |
rs397515417
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
|
24403048 |
2014 |
rs397515417
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autism traits in children and adolescents with Cornelia de Lange syndrome.
|
24718998 |
2014 |
rs397515417
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
|
24038889 |
2013 |
rs397515417
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
|
22889856 |
2012 |
rs397515417
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
|
22885700 |
2012 |
rs397515417
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cohesin: its roles and mechanisms.
|
19886810 |
2009 |
rs397515417
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Natural history of aging in Cornelia de Lange syndrome.
|
17640042 |
2007 |
rs397515417
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
|
15146185 |
2004 |
rs397515417
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
|
15146186 |
2004 |