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About 8 results

ALLMedicine™ Acromesomelic Dysplasia Maroteaux Type Center

Research & Reviews  4 results

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...

Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Marote...
https://doi.org/10.1111/ahg.12116
Annals of Human Genetics; Irfanullah , Umair M et. al.

May 11th, 2015 - Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene loca...

Acromesomelic dysplasia Maroteaux type
https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type

Dec 31st, 2014 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 40 Definition A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >1...

The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mu...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4219045
BMC Musculoskeletal Disorders; Shapiro F, Barone L et. al.

Oct 16th, 2014 - The cn/cn dwarf mouse is caused by a loss-of-function mutation in the natriuretic peptide receptor 2 (NPR-2) gene which helps positively regulate endochondral longitudinal bone growth. The gene mutation corresponds to that in the human skeletal dy...

see more →

Clinicaltrials.gov  4 results

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...

Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Marote...
https://doi.org/10.1111/ahg.12116
Annals of Human Genetics; Irfanullah , Umair M et. al.

May 11th, 2015 - Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene loca...

Acromesomelic dysplasia Maroteaux type
https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type

Dec 31st, 2014 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 40 Definition A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >1...

The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mu...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4219045
BMC Musculoskeletal Disorders; Shapiro F, Barone L et. al.

Oct 16th, 2014 - The cn/cn dwarf mouse is caused by a loss-of-function mutation in the natriuretic peptide receptor 2 (NPR-2) gene which helps positively regulate endochondral longitudinal bone growth. The gene mutation corresponds to that in the human skeletal dy...

see more →