Donnai-Barrow syndrome
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.
|
17632512 |
2007 |
Donnai-Barrow syndrome
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.
|
17632512 |
2007 |
Donnai-Barrow syndrome
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
|
18553518 |
2008 |
Donnai-Barrow syndrome
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
In man, mutations of the megalin-encoding gene causes the rare Donnai-Barrow/Facio-Oculo-Acoustico-Renal Syndrome, which is partially characterized by high-grade myopia.
|
24980834 |
2014 |
Donnai-Barrow syndrome
|
0.960 |
GeneticVariation
|
disease |
UNIPROT |
By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.
|
17632512 |
2007 |
Donnai-Barrow syndrome
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LRP2 have been shown to cause the Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with facial dysmorphism, ocular anomalies, sensorineural hearing loss, low molecular weight proteinuria, and diaphragmatic hernia and absent corpus callosum, although there is variability in the expression of some features.
|
23992033 |
2014 |
Donnai-Barrow syndrome
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.
|
25682901 |
2015 |
Donnai-Barrow syndrome
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Donnai-Barrow syndrome: four additional patients.
|
12923867 |
2003 |
Donnai-Barrow syndrome
|
0.960 |
Biomarker
|
disease |
MGD |
Mutation of megalin leads to urinary loss of selenoprotein P and selenium deficiency in serum, liver, kidneys and brain.
|
20653565 |
2010 |
Donnai-Barrow syndrome
|
0.960 |
Biomarker
|
disease |
BEFREE |
Biallelic mutations in low-density lipoprotein-related protein 2 (LRP2) cause the multi-system Donnai-Barrow syndrome (facio-oculo-acoustico-renal syndrome).
|
29388841 |
2018 |
Donnai-Barrow syndrome
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
Donnai-Barrow syndrome
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.
|
17632512 |
2007 |
Donnai-Barrow syndrome
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
|
18553518 |
2008 |
Donnai-Barrow syndrome
|
0.960 |
Biomarker
|
disease |
CTD_human |
|
|
|
Donnai-Barrow syndrome
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
|
|
|