Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Expanding phenotype of XNP mutations: mild to moderate mental retardation.
|
12116232 |
2002 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).
|
12032728 |
2002 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Expanding phenotype of XNP mutations: mild to moderate mental retardation.
|
12116232 |
2002 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
|
11050622 |
2000 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.
|
11015451 |
2000 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
|
11050622 |
2000 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.
|
11015451 |
2000 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.
|
10570185 |
1999 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Carpenter-Waziri syndrome results from a mutation in XNP.
|
10398237 |
1999 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.
|
10417298 |
1999 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Germline and gonosomal mosaicism in the ATR-X syndrome.
|
10602370 |
1999 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Germline and gonosomal mosaicism in the ATR-X syndrome.
|
10602370 |
1999 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.
|
10417298 |
1999 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.
|
10570185 |
1999 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Carpenter-Waziri syndrome results from a mutation in XNP.
|
10398237 |
1999 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
|
1415255 |
1992 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
|
1415255 |
1992 |