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Is Spontaneous Hypoglycemia a Feature of XLID Type Nascimento?
Introduction: X-linked intellectual disability (XLID) type Nascimento is a rare, under-diagnosed genetic disorder caused by intragenic mutations in the UBE2A gene. The syndrome was first described in 2006 by Nascimento et el. It is characterized by intellectual disability, dysmorphic facial features...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089636/ http://dx.doi.org/10.1210/jendso/bvab048.793 |