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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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| 出版年: | Clin Pediatr Endocrinol |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The Japanese Society for Pediatric Endocrinology
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7348635/ https://ncbi.nlm.nih.gov/pubmed/32694885 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.29.99 |
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