About 50 results

ALLMedicine™ Acromesomelic Dysplasia Center

Research & Reviews  20 results

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...

Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomel...
European Journal of Medical Genetics; Ain NU, Iqbal M et. al.

Oct 26th, 2018 - Acromesomelic dysplasia are a heterogeneous group of disorders with variable spectrum and severity of skeletal anomalies in the affected individuals. Acromesomelic dysplasia type Maroteaux (AMDM) is characterized by extreme shortening of the forel...

see more →