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A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux

Acromesomelic dysplasia, type Maroteaux (AMDM) is a congenital bone dysplasia characterized by disproportionate, acromesomelic shortening of the limbs and mild spondylar dysplasia. AMDM is caused by biallelic loss-of-function mutations in NPR2 encoding natriuretic peptide receptor-B. We report on a...

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Detalles Bibliográficos
Autores principales:	Amano, Naoko, Kitoh, Hiroshi, Narumi, Satoshi, Nishimura, Gen, Hasegawa, Tomonobu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society for Pediatric Endocrinology 2020
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7348635/ https://www.ncbi.nlm.nih.gov/pubmed/32694885 http://dx.doi.org/10.1297/cpe.29.99

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