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ALLMedicine™ Acromesomelic Dysplasia Maroteaux Type Center
Research & Reviews 2 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.
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
https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type
https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type
Jan 1st, 2015 - 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...
