Article

Contrasting LRP5 Mutations in Osteoporosis-Pseudoglioma Syndrome and Osteopetrosis: Case Reports and Literature Review.

2024-12-19

Abstract excerpt

<title>Abstract</title> <p>Background: This study explores the critical role of LRP5 gene mutations in bone metabolism by presenting two cases of rare inherited disorders with contrasting skeletal manifestations. The study aims to highlight the spectrum of LRP5-associated disorders through the analysis of these cases. Results The first case involves a male patient with osteoporosis-pseudoglioma syndrome (OPPG)...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 94de16da-fe97-54cc-aaf5-acf66e4c4211
DOI: 10.21203/rs.3.rs-5329332/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Contrasting LRP5 Mutations in Osteoporosis-Pseudoglioma Syndrome and Osteopetrosis: Case Reports and Literature Review.DOI 10.21203/rs.3.rs-5329332/v1Read

Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma SyndromeSemantic proximity Read

Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment.Semantic proximity Read

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

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.Semantic proximity Read

[Analysis of LRP5 gene variants in a Chinese pedigree affected with Osteoporosis-pseudoglioma syndrome].Semantic proximity Read

Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.Semantic proximity Read

A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.Semantic proximity Read

[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis].Semantic proximity Read

Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5.Semantic proximity Read

Potential blindness in children of patients with hereditary bone disease.Semantic proximity Read

Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome.Semantic proximity Read

LRP receptor family member associated bone disease.Semantic proximity Read