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Growth hormone treatment for short stature associated with duplication of the NSD1 Sotos syndrome gene
NSD1 deletions are associated with the Sotos syndrome, a syndrome of overgrowth in childhood without evidence of endocrine disturbance. Duplications involving the NSD1 gene have been reported to be associated with a ‘reverse Sotos syndrome’ phenotype, characterised by short stature, microcephaly, dy...
Tallennettuna:
| Julkaisussa: | Endocrinol Diabetes Metab Case Rep |
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| Päätekijät: | , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Bioscientifica Ltd
2021
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7983471/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-20-0033 |
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