Сlinical and Radiological Characteristics of Two Patients with Acromesomelic Dysplasia Maroteaux Type with New Mutation in the <i>NRP2</i> Gene

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...

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Bibliographic Details
Main Authors: T. V. Markova, V. M. Kenis, O. L. Mironovich, O. A. Shchagina, T. S. Nagornova, E. V. Melchenko, E. L. Dadali
Format: Article
Language:Russian
Published: Vreden Russian Research Institute of Traumatology and Orthopedics 2020-09-01
Series:Travmatologiâ i Ortopediâ Rossii
Subjects:
acromezomelic dysplasia
<i>npr2</i> gene
exome sequencing
Online Access:https://journal.rniito.org/jour/article/view/1446

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