|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
CAMPOMELIC DYSPLASIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Campomelic dysplasia and acampomelic campomelic dysplasia (ACD) are allelic disorders due to heterozygous mutations in or around SOX9.
|
26663529 |
2016 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
CMD has recently been classified into four categories: CMD I, the classical or "pure' CMD without severe impairment of intellectual development; CMD II, the Fukuyama type CMD with muscle and structural brain abnormalities; CMD III and IV with muscle, eye and brain abnormalities; the milder Finnish type CMD (CMD III) and the severe Walker-Warburg syndrome (CMD IV).
|
8930416 |
1996 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Campomelic dysplasia (CD) is a rare skeletal malformation syndrome caused by mutations in the SRY related gene SOX9, mapped to 17q24.3-q25.1.
|
9678706 |
1998 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal.
|
25604083 |
2015 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
SOX9 is responsible for campomelic dysplasia (CMPD).
|
28965976 |
2018 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.
|
15806394 |
2005 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
|
24038782 |
2013 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Acampomelic campomelic syndrome.
|
11754051 |
2001 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acampomelic form of campomelic dysplasia with SOX9 missense mutation.
|
23564514 |
2014 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
Chromosomal rearrangements with breakpoints mapping up to 1.6 Mb up- and downstream to SOX9, and disrupting its distant cis-regulatory elements, have been described in patients with milder forms of campomelic dysplasia, Pierre Robin sequence, and sex reversal.
|
26059046 |
2015 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
|
11323423 |
2001 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
MGD |
Conditional inactivation of Sox9: a mouse model for campomelic dysplasia.
|
11857796 |
2002 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia.
|
9724758 |
1998 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
MGD |
Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology.
|
26234751 |
2016 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
|
22051515 |
2011 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Findings support the notion that more mildly affected, surviving CD/ACD patients carry mutant <i>SOX9</i> alleles with residual expression of SOX9 wild-type protein.
|
28546996 |
2017 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
Genetic study of SOX9 in a case of campomelic dysplasia.
|
11223854 |
2001 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of SOX9 is known to cause campomelic dysplasia (CD).
|
17409199 |
2007 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we show that SOX9, a gene involved in campomelic dysplasia (CD) in humans, together with its close homologue SOX8, plays an essential role in RET signalling.
|
21212101 |
2011 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
|
20513132 |
2010 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
|
20513132 |
2010 |
|
CAMPOMELIC DYSPLASIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous SOX9 mutations can cause XY GD in association with the skeletal malformation syndrome campomelic dysplasia.
|
20838034 |
2010 |