| Autor: |
Jing, Wu, Mengru, Wang, Zhouyang, Jiao, Binghua, Dou, Bo, Li, Jianjiang, Zhang, Haohao, Zhang, Yue, Sun, Xin, Tu, Xiangdong, Kong, Ying, Bai |
| Rok vydání: |
2021 |
| Zdroj: |
Frontiers in genetics. 13 |
| ISSN: |
1664-8021 |
| Popis: |
Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare skeletal dysplasia characterized by severe disproportionate short stature, short hands and feet, normal intelligence, and facial dysmorphism. Homozygous or compound heterozygous mutations in the natriuretic peptide receptor 2 ( |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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