ALLMedicine™ Acromesomelic Dysplasia Center
Research & Reviews 25 results
Journal of Bone and Mineral Research : the Official Journ... Reilly ML, Ain NU et. al.
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...
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...
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...
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...
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...