Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients
A description of the clinical and genetic characteristics of four Russian patients with Schaaf–Yang syndrome, caused by previously described and newly identified nucleotide variants in MAGEL2 gene, is presented. It was shown that the most severe clinical manifestations were found in a patient with t...
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2024-03-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/589 |
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