Duane Retraction Syndrome
|
0.500 |
Biomarker
|
disease |
LHGDN |
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.
|
17623483 |
2007 |
Duane Retraction Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel truncating mutation in the SALL4 gene that leads to diversified clinical features of DRS in a Chinese family.
|
23687435 |
2013 |
Duane Retraction Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency for SALL4 due to nonsense or frameshift mutations has been associated with acro-renal ocular syndrome that is characterized by eye defects including Duane anomaly and coloboma, in addition to radial ray malformations and renal abnormalities.
|
27661448 |
2017 |
Duane Retraction Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development.
|
12395297 |
2002 |
Duane Retraction Syndrome
|
0.500 |
Biomarker
|
disease |
CTD_human |
A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.
|
16402211 |
2006 |
Duane Retraction Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In prior studies, the transcription factors SALL4 and HOXA1 were identified as the genes mutated in DRS with radial anomalies, and in DRS with deafness, vascular anomalies, and cognitive deficits, respectively.
|
17197532 |
2007 |
Duane Retraction Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SALL4 have been identified in patients with Okihiro syndrome, which is characterized by radial ray anomalies associated with a Duane anomaly.
|
16411190 |
2006 |
Duane Retraction Syndrome
|
0.500 |
Biomarker
|
disease |
CTD_human |
Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome.
|
30067223 |
2018 |
Duane Retraction Syndrome
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Duane Retraction Syndrome
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.
|
15342710 |
2004 |
Duane Retraction Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this prospective, non-interventional study we screened for SALL4 mutations in 72 patients clinically diagnosed as having isolated DRS or DRS associated syndromes.
|
21405998 |
2011 |
Duane Retraction Syndrome
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Okihiro syndrome is caused by SALL4 mutations.
|
12393809 |
2002 |
Duane Retraction Syndrome
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development.
|
12395297 |
2002 |
Duane Retraction Syndrome
|
0.500 |
Biomarker
|
disease |
LHGDN |
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
|
16086360 |
2005 |