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Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report
Genetic tests have led to the discovery of many novel genetic variants related to growth failure, but the clinical significance of some results is not always easy to establish. The aim of this report is to describe both clinical phenotype and genetic characteristics in an adult patient with short st...
Autores principales: | Biagetti, Betina, Valenzuela, Irene, Campos-Martorell, Ariadna, Campos, Berta, Hernandez, Sara, Giralt, Marina, Díaz-Troyano, Noelia, Iniesta-Serrano, Emilio, Yeste, Diego, Simó, Rafael |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10341270/ https://www.ncbi.nlm.nih.gov/pubmed/37443653 http://dx.doi.org/10.3390/diagnostics13132259 |
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