Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.
|
29371155 |
2018 |
Microphthalmia, Syndromic 3
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome.
|
27862890 |
2017 |
Microphthalmia, Syndromic 3
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
|
24033328 |
2014 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetic architecture of microphthalmia, anophthalmia and coloboma.
|
24859618 |
2014 |
Microphthalmia, Syndromic 3
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
|
24033328 |
2014 |
Microphthalmia, Syndromic 3
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.
|
24211324 |
2014 |
Microphthalmia, Syndromic 3
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
|
24498598 |
2013 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
|
21326281 |
2011 |
Microphthalmia, Syndromic 3
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Parent-of-origin effects in SOX2 anophthalmia syndrome.
|
22171155 |
2011 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
BEFREE |
Sex determining region Y (SRY)-box 2 (SOX2) anophthalmia syndrome is an autosomal dominant disorder manifesting as severe developmental eye malformations associated with brain, esophageal, genital, and kidney abnormalities.
|
22171155 |
2011 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
BEFREE |
The role of SOX2 in dental development remains unknown, however, multiple supernumerary teeth can be considered as extraocular symptoms of SOX2 anophthalmia syndrome, rather than the coincidence of two rare diseases.
|
20803647 |
2010 |
Microphthalmia, Syndromic 3
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
The recurrent de novo frameshift mutation c.70del20 was identified in one patient with microphthalmia and syndromic anomalies consistent with SOX2 anophthalmia syndrome; the mutation frequency in our A/M population (4%) was lower than previously reported; it is likely that extensive utilization of clinical SOX2 testing has led to a bias toward SOX2-negative A/M cases in our research cohort.
|
20454695 |
2010 |
Microphthalmia, Syndromic 3
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
|
19921648 |
2009 |
Microphthalmia, Syndromic 3
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
|
16543359 |
2006 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.
|
16283891 |
2005 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in SOX2 cause anophthalmia.
|
12612584 |
2003 |
Microphthalmia, Syndromic 3
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SOX2 cause anophthalmia.
|
12612584 |
2003 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].
|
8741917 |
1996 |
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Microphthalmia, Syndromic 3
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|