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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...
Gorde:
| Argitaratua izan da: | Endocrinol Diabetes Metab Case Rep |
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| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Bioscientifica Ltd
2021
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7983471/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-20-0033 |
| Etiketak: |
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