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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Bibliographic Details
Main Authors: Isaac T Bernhardt, Alistair J Gunn, Philippa J Carter
Format: Article
Language:English
Published: Bioscientifica 2021-03-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
Online Access:https://edm.bioscientifica.com/view/journals/edm/2021/1/EDM20-0033.xml