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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
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

Internet

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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