Disease: Acromesomelic dysplasia Maroteaux type
- A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (<em>NPR2</em>) variants
- A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants
- A novel <em>NPR2</em> mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux
- A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type
- A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
- A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan)
- A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux
- Acromesomelic dysplasia Maroteaux type maps to human chromosome 9
- Acromesomelic dysplasia Maroteaux-type in patients from Vietnam
- Acromesomelic dysplasia of the Maroteaux type
- Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome?
- Acromesomelic dysplasia-Maroteaux type, nine patients with two novel <em>NPR2</em> variants
- Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants
- Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports
- Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings
- An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs
- Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia
- Biallelic cGMP-dependent type II protein kinase gene (<em>PRKG2</em>) variants cause a novel acromesomelic dysplasia
- Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
- C-natriuretic peptide: an important regulator of cartilage
- C-type natriuretic peptide in growth: a new paradigm
- C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia
- Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
- Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux
- Evaluation of polysomnography findings in children with genetic skeletal disorders
- Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type
- Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience
- Heterozygous <em>NPR2</em> Mutation in Two Family Members with Short Stature and Skeletal Dysplasia
- Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature
- Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature
- Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature
- Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families
- Hormones and osteoporosis update. Effects of natriuretic peptides on endochondral bone growth
- Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature
- Identification of Diagnostic Variants in <em>FGFR2</em> and <em>NPR2</em> Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux
- Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux
- Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type
- Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development
- Management of general anesthesia for a patient with Maroteaux type acromesomelic dysplasia complicated with obstructive sleep apnea syndrome and hereditary myopathy
- Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux
- Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
- Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions
- New pathogenic variant in the NPR2 gene: Etiology of low size, macrocephaly and bone dysplasia in a male with acromesomelic dysplasia Maroteaux-type
- Novel Loss-of-Function Mutations in <em>NPR2</em> Cause Acromesomelic Dysplasia, Maroteaux Type
- Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type
- Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux
- Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux
- Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature
- Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux
- Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene
- Phosphatase inhibition by LB-100 enhances BMN-111 stimulation of bone growth
- Regulation and therapeutic targeting of peptide-activated receptor guanylyl cyclases
- Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations
- Study of the classification of chondrodysplasias with mesomelic predominance
- The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM)
- Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias
- Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature