About 53 results

ALLMedicine™ Acromesomelic Dysplasia Center

Research & Reviews  21 results

NPR2 gene variants in familial short stature: a single-center study.
Journal of Pediatric Endocrinology & Metabolism : JPEM; Yuan K, Chen J et. al.

Sep 27th, 2021 - NPR2 variants are associated with various short stature and bone dysplasia, such as acromesomelic dysplasia Maroteaux tyoe, individuals with a phenotype similar to Léri-Weill syndrome (LWD), and idiopathic short stature (ISS). However, few studies...

Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants.
Journal of Pediatric Endocrinology & Metabolism : JPEM; Kılıç E, Çavdarlı B et. al.

Jun 24th, 2021 - Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations of NPR2, which encodes a cartilage regulator C-type natriuretic peptide receptor B. NPR2 variations impair skelet...

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acr...
Journal of Medical Genetics; Díaz-González F, Wadhwa S et. al.

Oct 28th, 2020 - C-type natriuretic peptide (CNP), its endogenous receptor, natriuretic peptide receptor-B (NPR-B), as well as its downstream mediator, cyclic guanosine monophosphate (cGMP) dependent protein kinase II (cGKII), have been shown to play a pivotal rol...

Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.
The Journal of Clinical Endocrinology and Metabolism; Hanley PC, Kanwar HS et. al.

Jul 29th, 2020 - NPR2 encodes atrial natriuretic peptide receptor B (ANPRB), a regulator of skeletal growth. Biallelic loss-of-function mutations in NPR2 result in acromesomelic dysplasia Maroteaux type (AMDM; OMIM 602875), while heterozygous mutations may account...

Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.
American Journal of Medical Genetics. Part A; Tran TH, Cao MH et. al.

May 12th, 2019 - Acromesomelic dysplasias are rare skeletal disorders leading to severe short stature and abnormal skeletal morphology. Acromesomelic dysplasia Maroteaux-type is caused by homozygous or compound heterozygous pathogenic variants in NPR2 that encodes...

see more →