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Article

Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome.

Genetic testing and molecular biomarkers - 1 Dec 2017

Astiazarán Mirena C, Cervantes-Sodi María, Rebolledo-Enríquez Erick, Chacón-Camacho Oscar, Villegas Vanessa, Zenteno Juan Carlos

Abstract excerpt

AIMS: Osteoporosis-pseudoglioma syndrome (OPPG) is an uncommon autosomal recessive disorder characterized by the rare association of early-onset osteoporosis and severe ocular abnormalities such as persistent fetal vasculature and microphthalmia. Biallelic mutations in the low-density lipoprotein receptor-related protein-5 gene (LRP5) have been associated with OPPG. We present clinical and genetic data from three...

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Identifiers

PMID: 29131652
DOI: 10.1089/gtmb.2017.0118

Genes

LRP5

Variants

Provenance

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