ALLMedicine™ Acromesomelic Dysplasia Center
Research & Reviews 20 results
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...
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...
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...