Narrative
May 2017 update: Previously returned to REF 2014. Unlikely to proceed to REF 2021. Red status.One in ~1,000 children has significant short stature that needs medical evaluation, one in ~4,000 has growth hormone deficiency and one in ~≥10,000 has a genetic growth disorder. Research at the University of Manchester (UoM) has impacted on clinicians worldwide who manage growth disorders. UoM researchers have: characterised growth disorder phenotypes to ensure the right tests are used for the right child and verified the accuracy of diagnostic biochemical tests; discovered new genes associated with a primordial growth disorder and introduced new molecular diagnostic tests for international use; and generated clinical practice guidelines adopted by the worldwide paediatric endocrine community.
| Impact date | 2008 |
|---|---|
| Category of impact | Health impacts |
| Impact level | Benefit |
Documents & Links
Related content
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Research output
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The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1
Research output: Contribution to journal › Article › peer-review
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Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
Research output: Contribution to journal › Article › peer-review
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Identification of mutations in CUL7 in 3-M syndrome
Research output: Contribution to journal › Article › peer-review
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Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth
Research output: Contribution to journal › Article › peer-review
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Effect of severe growth hormone (GH) deficiency due to a mutation in the GH-releasing hormone receptor on insulin-like growth factors (IGFs), IGF-binding proteins, and ternary complex formation throughout life
Research output: Contribution to journal › Article › peer-review