PARIETAL FORAMINA
|
0.890 |
GermlineCausalMutation
|
disease |
ORPHANET |
We conclude that PFM caused by mutations in ALX4 and MSX2 have a similar prevalence and are usually clinically indistinguishable.
|
16319823 |
2006 |
PARIETAL FORAMINA
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Vascular and cortical anomalies have been found in a family with parietal foramina type 2 (PFM2), which is determined by the ALX4 gene.
|
15569759 |
2005 |
PARIETAL FORAMINA
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
This is the second report of a family showing vertical transmission of a dominant ALX4 mutation with facial involvement in addition to parietal foramina, mimicking mild recessive ALX4 phenotype.
|
24764194 |
2014 |
PARIETAL FORAMINA
|
0.890 |
Biomarker
|
disease |
BEFREE |
The involvement of Alx4 in murine skull development, its bone-specific expression pattern, the fact that Alx4 is a dosage-sensitive gene in mice, and the localization of a human genomic clone containing ALX4 to 11p11.2, with hemizygosity in patients with deletion of 11p11.2 who have biparietal foramina, support the contention that ALX4 is a candidate gene for the PFM in the 11p11.2-deletion syndrome.
|
11017806 |
2000 |
PARIETAL FORAMINA
|
0.890 |
Biomarker
|
disease |
BEFREE |
The full spectrum of PSS manifests when deletions are at least 2.1 Mb in size, spanning from D11S1393 to D11S1385/D11S1319 (44.6-46.7 Mb from the 11p terminus) and encompassing EXT2, responsible for multiple exostoses, and ALX4, causing parietal foramina.
|
15852040 |
2005 |
PARIETAL FORAMINA
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Some of the clinical features are thought to be associated with haploinsufficiency of two genes in the 11p11.2 region; variants affecting the function of ALX4 cause enlarged parietal foramina and EXT2 lead to multiple exostoses.
|
30487643 |
2019 |
PARIETAL FORAMINA
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the ALX4 gene in three unrelated FPP families without the MSX2 mutation identified mutations in two families, indicating that mutations in ALX4 could be responsible for these skull defects and suggesting further genetic heterogeneity of FPP.
|
11106354 |
2000 |
PARIETAL FORAMINA
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
In contrast, heterozygous loss-of-function mutations in ALX4 had been only associated with isolated symmetrical parietal ossification defects at the intersection of the sagittal and lambdoid sutures, known as enlarged parietal foramina.
|
23401352 |
2013 |
PARIETAL FORAMINA
|
0.890 |
AlteredExpression
|
disease |
BEFREE |
Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.
|
11137991 |
2001 |
PARIETAL FORAMINA
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Being proximal to EXT2 and ALX4, a 1.1 Mb region containing 12 annotated genes had been identified by deletion mapping to explain PSS phenotypes except multiple exostoses and parietal foramina.
|
26333423 |
2015 |
PARIETAL FORAMINA
|
0.890 |
Biomarker
|
disease |
MGD |
A novel allele of Alx4 results in reduced Fgf10 expression and failure of eyelid fusion in mice.
|
25673119 |
2015 |
PARIETAL FORAMINA
|
0.890 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
|
29215649 |
2018 |
PARIETAL FORAMINA
|
0.890 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
|
29215649 |
2018 |
PARIETAL FORAMINA
|
0.890 |
Biomarker
|
disease |
HPO |
|
|
|
PARIETAL FORAMINA
|
0.890 |
CausalMutation
|
disease |
CLINVAR |
|
|
|