A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants
Acromesomelic dysplasia, type Maroteaux is caused by variants in NPR2. It is a severe chondrodysplasia resulting in shortening of the middle and distal segments of the limbs. Limb length at birth may be normal but decreased growth becomes obvious in the first 2 years of life. Here we present an 11-y...
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| Principais autores: | , , |
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| 格式: | Artigo |
| 语言: | Inglês |
| 出版: |
Elsevier
2021-08-01
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| 丛编: | Radiology Case Reports |
| 主题: | |
| 在线阅读: | http://www.sciencedirect.com/science/article/pii/S1930043321003009 |
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