Greenberg Dysplasia Latest Advances

Novel LBR pathogenic variants with loss of sterol reductase activity participate in the pathogenesis of skeletal dysplasia via dysregulating canonical Wnt pathway.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: January 09, 2025

A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly.

Journal: Molecular syndromology

Published: October 18, 2024

Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors.

Journal: Frontiers in genetics

Published: August 16, 2022

Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia.

Journal: American journal of medical genetics. Part A

Published: January 22, 2021

Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation.

Journal: Communications biology

Published: April 28, 2020

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.

Journal: Bone

Published: March 26, 2020

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.

Journal: Molecular genetics & genomic medicine

Published: January 28, 2020

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.

Journal: American journal of medical genetics. Part A

Published: September 21, 2018

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.

Journal: Bone

Published: August 17, 2018

The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.

Journal: eLife

Published: March 13, 2016

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

Journal: American journal of medical genetics. Part A

Published: June 27, 2014

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Journal: Pediatric radiology

Published: May 06, 2014

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Novel LBR pathogenic variants with loss of sterol reductase activity participate in the pathogenesis of skeletal dysplasia via dysregulating canonical Wnt pathway.

Novel LBR pathogenic variants with loss of sterol reductase activity participate in the pathogenesis of skeletal dysplasia via dysregulating canonical Wnt pathway.

A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly.

A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly.

Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors.

Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors.

Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia.

Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia.

Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation.

Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation.

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.

The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.

The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.