Associated Papers
Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.
Jeong R et al.
American Journal of Human Genetics, 2026
The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.
Gariballa N et al.
Journal of Biomedical Science, 2024
Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.
He J et al.
Open Life Sciences, 2024
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.
Kahraman AB et al.
American Journal of Medical Genetics. Part A, 2022
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
Simsek-Kiper PO et al.
Journal of Human Genetics, 2021
Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.
Ke X et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.
Hanley PC et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy.
Plachy L et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations.
Hwang IT et al.
Molecular Genetics & Genomic Medicine, 2020
A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux.
Amano N et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2020
Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.
Irfanullah et al.
The International Journal of Biochemistry & Cell Biology, 2018
Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.
Srivastava P et al.
Journal of Genetics, 2016
Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
Hisado-Oliva A et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.
Amano N et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Role of the natriuretic peptide system in normal growth and growth disorders.
Vasques GA et al.
Hormone Research in Paediatrics, 2014