Сlinical and Radiological Characteristics of Two Patients with Acromesomelic Dysplasia Maroteaux Type with New Mutation in the <i>NRP2</i> Gene
Relevance. Acromezomelic dysplasia Maroteaux type (AMDM) is a rare variant of autosomal recessive skeletal disorder. The disease is caused by mutations in the NPR2 gene, coding the protein product which is one of the main regulators of endochondral ossification. To date, 49 mutations in this gene ha...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Vreden Russian Research Institute of Traumatology and Orthopedics
2020-09-01
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| Series: | Travmatologiâ i Ortopediâ Rossii |
| Subjects: | |
| Online Access: | https://journal.rniito.org/jour/article/view/1446 |