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About 63 results

ALLMedicine™ Acromesomelic Dysplasia Center

Research & Reviews  25 results

Biallelic KIF24 variants are responsible for a spectrum of skeletal disorders ranging f...
https://doi.org/10.1002/jbmr.4639
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 dyspla...

NPR2 gene variants in familial short stature: a single-center study.
https://doi.org/10.1515/jpem-2021-0332
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.
https://doi.org/10.1515/jpem-2021-0055
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...
https://doi.org/10.1136/jmedgenet-2020-107177
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7442278
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...

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