A 12,000-Year-Old Case of NPR2-Related Acromesomelic Dysplasia.

Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia.

A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia.

Management of a geminated tooth and supernumeraries in a patient with Acromesomelic Dysplasia, Maroteaux type.

A novel variant in NPR2: C.2291T > C (p.Leu764Pro) identified in a patient with acromesomelic dysplasia Maroteaux type.

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.

Antenatal unilateral upper limb acromesomelic dysplasia.

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction.

Anaesthetic challenges in a patient with acromesomelic dysplasia posted for vitreoretinal surgery - A case study.

Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.

Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.

A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.

Evaluation of polysomnography findings in children with genetic skeletal disorders.

Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.

Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.

Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux.

WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature.

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.

NPR2 gene variants in familial short stature: a single-center study.

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.

A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants.

Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants.

Rare case of dual diagnosis in consanguineous family: a case report.

Phosphatase inhibition by LB-100 enhances BMN-111 stimulation of bone growth.

Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).

A case report of Arnold Chiari type 1 malformation in acromesomelic dwarf infant.

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.

Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings.

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.

Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.

A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux.

A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).

Skeletal ciliopathies: a pattern recognition approach.

An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs.

Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.

Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia.

Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux.

Bone morphogenetic protein receptor signal transduction in human disease.

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type.

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.

New pathogenic variant in the NPR2 gene: Etiology of low size, macrocephaly and bone dysplasia in a male with acromesomelic dysplasia Maroteaux-type.

Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.

New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies.

Genetics of human isolated acromesomelic dysplasia.

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.

Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.

A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE.

Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.

Accommodating difference in the prehistoric past: Revisiting the case of Romito 2 from a bioarchaeology of care perspective.

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.