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An XRCC4 Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome
CONTEXT: Severe short stature can be caused by defects in numerous biological processes including defects in IGF-1 signaling, centromere function, cell cycle control, and DNA damage repair. Many syndromic causes of short stature are associated with medical comorbidities including hypogonadism and mi...
Shranjeno v:
| izdano v: | J Clin Endocrinol Metab |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Endocrine Society
2015
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4422886/ https://ncbi.nlm.nih.gov/pubmed/25742519 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2015-1098 |
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