Characterisation of dominant-negative GH receptor variants reveals a potential therapeutic target for short stature.
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DOI: 10.1093/ejendo/lvad039
Abstract: OBJECTIVE Growth hormone insensitivity (GHI) encompasses growth restriction, normal/elevated growth hormone (GH), and low insulin-like growth factor I (IGF1). 'Non-classical' GHI is poorly characterised and is rarely caused by heterozygous dominant-negative (DN) variants located in… read more here.
Keywords: growth restriction; ghr; growth; ghr variants ... See more keywords