ALLMedicine™ Acromesomelic Dysplasia Center

Dec 13th, 2022 - Acromesomelic dysplasias (AMD) are a group of skeletal dysplasia characterized by shortening of the middle and distal segments of the limbs. Recently, biallelic PRKG2 variants have been reported to cause a new type of AMD. We detected biallelic no...

Jun 25th, 2022 - Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in severity from lethal to mild phenotypes. This study aimed to underpin the genetic cause of skeletal dysp...

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...

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...

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...