| Autor: |
Makretskaya NA; Research Centre for Medical Genetics., Vorontsova IG; Russian Children's Clinical Hospital., Buianova AA; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University., Korostin DO; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University., Petryaykina EE; Russian Children's Clinical Hospital., Tiulpakov AN; Research Centre for Medical Genetics; Russian Children's Clinical Hospital. |
| Jazyk: |
ruština |
| Zdroj: |
Problemy endokrinologii [Probl Endokrinol (Mosk)] 2023 Oct 23; Vol. 70 (3), pp. 93-97. Date of Electronic Publication: 2023 Oct 23. |
| DOI: |
10.14341/probl13377 |
| Abstrakt: |
Growth retardation for more than 2 SD below the average population or presumed familial target height is classified as a short stature and may be a clinical manifestation of a large number of disorders. The use of the latest methods of molecular genetic analysis in recent years has allowed for a better understanding of the pathogenesis of inherited forms of a short stature. One of the recently discovered mechanisms of this pathology was monoallelic mutations in RPL13 gene, leading to the development of Isidor-Toutain type spondyloepimetaphyseal dysplasia (SEDM). Characteristic phenotypic features for this form are normal birth length, early postnatal growth deficiency, platyspondyly, proximal femoral epiphyseal changes, coxa vara, genu varum. This study presents the clinical and radiological characteristics of the first patient in the Russian -Federation with SEMD caused by a mutation in RPL13 gene. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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