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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...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Endocrinol Diabetes Metab Case Rep
Egile Nagusiak: Bernhardt, Isaac T, Gunn, Alistair J, Carter, Philippa J
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Bioscientifica Ltd 2021
Gaiak:
Sarrera elektronikoa: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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