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About 98 results

ALLMedicine™ Acromesomelic Dysplasia Center

Research & Reviews  49 results

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 27th, 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 28th, 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 11th, 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 25th, 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...

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the...
https://doi.org/10.1016/j.biocel.2018.07.004
The International Journal of Biochemistry & Cell Biology; Irfanullah , Zeb A et. al.

Jul 17th, 2018 - Homozygous and/or heterozygous loss of function mutations in the natriuretic peptide receptor B (NPR2) have been reported in causing acromesomelic dysplasia, type Maroteaux with variable clinical features and idiopathic short stature with nonspeci...

see more →

Clinicaltrials.gov  49 results

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 27th, 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 28th, 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 11th, 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 25th, 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...

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the...
https://doi.org/10.1016/j.biocel.2018.07.004
The International Journal of Biochemistry & Cell Biology; Irfanullah , Zeb A et. al.

Jul 17th, 2018 - Homozygous and/or heterozygous loss of function mutations in the natriuretic peptide receptor B (NPR2) have been reported in causing acromesomelic dysplasia, type Maroteaux with variable clinical features and idiopathic short stature with nonspeci...

see more →