Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion
Sotos syndrome belongs to the group of diseases characterised by features such as facial dysmorphism, intellectual disability, hypotonia and overgrowth. Usually, Sotos syndrome is caused by heterozygous mutations in the NSD1 gene at chromosome 5q35 or by large genomic deletions of the same region. G...
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| Huvudupphov: | , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
Pediatric Endocrinology and Diabetes Society
2026-03-01
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| Serie: | JCRPE |
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| Länkar: | https://www.jcrpe.org/articles/hyperinsulinemia-in-sotos-syndrome-with-a-lessemgreaterde-novo-nsd1-lessemgreaterdeletion/doi/jcrpe.galenos.2024.2023-5-15 |
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