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Freire JCEM 2019 - Multigene Sequencing Analysis of Children Born Small For Gestational Age by Vale Moren is a document available to read on EtoBox.
What is Freire JCEM 2019 - Multigene Sequencing Analysis of Children Born Small For Gestational Age about?
This study investigates the genetic basis of isolated short stature in children born small for gestational age (SGA) using multigene sequencing. Out of 55 patients, pathogenic variants were identified in 15%, primarily in genes associated with growth disorders, indicating that mild skeletal dysplasia may contribute to their growth issues. The findings highlight the effectiveness of genomic approaches in diagnosing short stature of unknown etiology in this population.
- Author
- Vale Moren
- Language
- EN