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ALLMedicine™ Acromesomelic Dysplasia Center

Research & Reviews  20 results

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...

Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.
https://doi.org/10.1002/ajmg.a.61192
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...
https://doi.org/10.1016/j.ejmg.2018.10.006
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...

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