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Pierson syndrome
Summary
- Synonym
-
- microcoria-congenital nephrosis syndrome
- Definition
- A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.
- Super Class
- autosomal recessive disease syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P55268 | Laminin subunit beta-2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q61292 | Laminin subunit beta-2 | |
| Q8CGB6 | Tensin-2 |
