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fevr [2023/03/12 19:52] – Scott Larsonfevr [2025/06/14 02:42] (current) – [Resources] Scott Larson
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 ===== Types ===== ===== Types =====
-  * Type 1 - Criswick-Schepens Syndrome+  * [[https://omim.org/entry/133780?search=%23%20133780&highlight=133780|Type 1]] - Criswick-Schepens Syndrome
     * Autosomal Dominant     * Autosomal Dominant
     * Gene: [[https://www.ncbi.nlm.nih.gov/gene/8322|FZD4]]     * Gene: [[https://www.ncbi.nlm.nih.gov/gene/8322|FZD4]]
-    * Chromosome: [[https://omim.org/geneMap/11/792?start=-3&limit=10&highlight=792|11q14.2]] +    * Chromosome location: [[https://omim.org/geneMap/11/792?start=-3&limit=10&highlight=792|11q14.2]] 
-  * Type 2+  * [[https://omim.org/entry/305390?search=%23%20305390&highlight=305390|Type 2]]
     * X-linked recessive     * X-linked recessive
     * Gene: [[https://www.ncbi.nlm.nih.gov/gene/?term=Homo+sapiens+norrin+cystine+knot+growth+factor+NDP|NDP gene]]      * Gene: [[https://www.ncbi.nlm.nih.gov/gene/?term=Homo+sapiens+norrin+cystine+knot+growth+factor+NDP|NDP gene]] 
-  * Type 3 +  * [[https://omim.org/entry/605750?search=%25%20605750&highlight=605750|Type 3]]  
 +    * Autosomal Dominant 
 +    * Chromosome location: 11p13-p12 (approximately 30 cM from the EVR1 locus) 
 +  * [[https://omim.org/entry/601813?search=601813&highlight=601813|Type 4]] 
 +    * Autosomal Recessive 
 +    * Gene: [[https://www.ncbi.nlm.nih.gov/gene/4041|LRP5]] 
 +    * Chromosome location: 11q13.2 
 +  * [[https://omim.org/entry/613310|Type 5]] 
 +    * Autosomal Dominant 
 +    * Gene: TSPAN12 
 +    * Chromosome location 7q31.31  
 +  * [[https://omim.org/entry/616468|Type 6]] 
 +    * Autosomal Dominant 
 +    * Gene: ZNF408 
 +    * Chromosome Location: 11p11.2 
 +  * [[https://omim.org/entry/617572|Type 7]] 
 +    * Autosomal Dominant 
 +    * Gene: CTNNB1 
 +    * Chromosome Location: 3p22.1
  
- 
-===== Genetics ===== 
-  * Autosomal Dominant Mutations 
-    * [[https://www.ncbi.nlm.nih.gov/gene/8322|FZD4]] 
-    * [[https://www.ncbi.nlm.nih.gov/gene/4041|LRP5]] - [[https://omim.org/entry/601813|OMIM entry]] 
-  * Autosomal Recessive Mutations 
-    * [[https://www.ncbi.nlm.nih.gov/gene/4041|LRP5]] 
-  * X-linked Recessive Mutations 
-    *  
  
 ===== Resources ===== ===== Resources =====
-  * {{ ::autosomal_dominant_vitreoretinopathy_ober_1980.pdf |Autosomal dominant exudative vitreoretinopathy. Ober et al. 1980}} +  * [[https://1drv.ms/b/c/31d83ae8e55e0542/EQ2egWBLGPVOkU4L2KerWEIBAtLKLuJKGAvLn9OEn2PkXQ?e=CDeXx0 |Autosomal dominant exudative vitreoretinopathy. Ober et al. 1980]] 
-  * {{ ::familial_exudative_vitreoretinopathy_and_related_retinopathies.pdf |Familial exudative vitreoretinopthy and related retinopathies. Gilmour DF. 2015}} +  * [[https://1drv.ms/b/c/31d83ae8e55e0542/ETIr3Jmg68pJoLHIIpNfXD8B4YbTfy32EMqoDeLLif_k-g?e=dkhPmm |Familial exudative vitreoretinopthy and related retinopathies. Gilmour DF. 2015]]
  
 +{{tag>syndrome}}