rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
|
25644381 |
2016 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
|
26338144 |
2015 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
|
26273451 |
2015 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in MED12 cause X-linked Ohdo syndrome.
|
23395478 |
2013 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
|
24039113 |
2013 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
|
20507344 |
2011 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.
|
20970104 |
2010 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
|
17369503 |
2007 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
|
17334363 |
2007 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
|
16700052 |
2006 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report.
|
17103446 |
2006 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.
|
17036352 |
2006 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and behavioral characteristics in FG syndrome.
|
10405444 |
1999 |
rs1556340124
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Two additional cases of the Ohdo blepharophimosis syndrome.
|
8279489 |
1993 |