A novel GHR intronic variant, c.266+83g>T, activates a cryptic 5′ splice site causing severe GHR deficiency and classical GH insensitivity syndrome

Eva Feigerlova, Mike Swinyard, Michael A. Derr, Jeannie Farnsworth, Shayne F. Andrew, Ron G. Rosenfeld, Vivian Hwa

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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Medicine & Life Sciences