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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 25-05-2011 |
Symbol | ELPAR | |||
Location | 1q21.3 | |||
HGNC id | 19706 | |||
Name | Ectopia Lentis and Pupillae Autosomal Recessive | |||
Other name(s) |
| |||
Corresponding gene | ADAMTSL4 | |||
Other symbol(s) | TSRC1 | |||
Main clinical features |
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Genetic determination
Function/system disorder
| eye | Type
| disease
| |
Gene product |
Name | ADAMTS-like 4 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| deletion
|  
| truncated protein
| PMID:20702823
| |
Remark(s) | associated with a number of malformations primarily in the anterior segment of the eye |