Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report

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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Bibliographic Details
Main Authors: Betina Biagetti, Irene Valenzuela, Ariadna Campos-Martorell, Berta Campos, Sara Hernandez, Marina Giralt, Noelia Díaz-Troyano, Emilio Iniesta-Serrano, Diego Yeste, Rafael Simó
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Diagnostics
Subjects:
short stature
genetics
macimorelin
<i>GHS-R</i>
<i>ADAMTS</i>
<i>ADAMTS17</i>
Online Access:https://www.mdpi.com/2075-4418/13/13/2259

Internet

https://www.mdpi.com/2075-4418/13/13/2259

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