Disease: Greenberg dysplasia
- 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 novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes
- Accurate Prediction of Bronchopulmonary Dysplasia: Are We There Yet?
- Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers
- 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
- Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia
- Assessment of Corticosteroid Therapy and Death or Disability According to Pretreatment Risk of Death or Bronchopulmonary Dysplasia in Extremely Preterm Infants
- Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes
- Control of craniofacial development by the collagen receptor, discoidin domain receptor 2
- Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation
- Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease
- Greenberg Skeletal Dysplasia: first reported case in the Democratic Republic of Congo
- Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes
- Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein
- Nail-Patella Syndrome
- Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening
- Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan
- Online clinical tool to estimate risk of bronchopulmonary dysplasia in extremely preterm infants
- Patient-reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfecta
- Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR
- Postnatal Progressive Craniosynostosis in Syndromic Conditions: Two Patients With Saethre-Chotzen Due to <em>TWIST1</em> Gene Deletions and Review of the Literature
- Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors
- Prognostication and risk stratification of patients with myelodysplastic syndromes
- Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis
- Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia
- Safety of sildenafil in premature infants at risk of bronchopulmonary dysplasia: Rationale and methods of a phase II randomized trial
- The danger of "multi-tasking": LBR out of control
- The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations