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ODP372 A Rare Case Of Cornelia de Lange Syndrome With Hyperinsulinism And Hypopituitarism
BACKGROUND: Cornelia de Lange syndrome (CdLS) is characterized by slow growth with short stature, intellectual disability with developmental delays, distinctive facial features, and limb defects. Various genetic mutations have been associated with CdLS, with approximately 60% of cases having a mutat...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625633/ http://dx.doi.org/10.1210/jendso/bvac150.1237 |