Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Open angle glaucoma 3D

Open angle glaucoma 3D is an autosomal recessive disorder that is caused by mutations of the LTBP2 gene.

Systematic

Open angle glaucoma 3
Open angle glaucoma 3A
Open angle glaucoma 3B
Open angle glaucoma 3C
Open angle glaucoma 3D
LTBP2

References:

1.

Azmanov DN et al. (2011) LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

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2.

Narooie-Nejad M et al. (2009) Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.

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3.

Ali M et al. (2009) Null mutations in LTBP2 cause primary congenital glaucoma.

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4.

Firasat S et al. (2008) Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families.

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5.

OMIM.ORG article

Omim 613086 [^]
Update: April 29, 2019