ALLMedicine™ Acromesomelic Dysplasia Maroteaux Type Center
Research & Reviews 2 results
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...
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...