×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
26671848
2016
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
26671848
2016
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Cornelia de Lange syndrome.
25209348
2015
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Cornelia de Lange syndrome.
25209348
2015
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
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
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Autism traits in children and adolescents with Cornelia de Lange syndrome.
24718998
2014
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Autism traits in children and adolescents with Cornelia de Lange syndrome.
24718998
2014
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
GeneticVariation
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
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
24038889
2013
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
24038889
2013
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
22885700
2012
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
GeneticVariation
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
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
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
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
CausalMutation
CLINVAR
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
22885700
2012
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Cohesin: its roles and mechanisms.
19886810
2009
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Cohesin: its roles and mechanisms.
19886810
2009
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Natural history of aging in Cornelia de Lange syndrome.
17640042
2007
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Natural history of aging in Cornelia de Lange syndrome.
17640042
2007
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
GeneticVariation
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
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
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
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
15146186
2004
×
Entrez Id:
55869
Gene Symbol:
HDAC8
HDAC8
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
15146186
2004