// App-Quantinova.ai

P1-129 : Variegated Mosaic Aneuploidy Syndrome In Two Severely Undersized Siblings

Researchers

Presenter

Principal Investigators

  • N/A

Medical Centers

  • Hospital Universitari Germans Trias i Pujol, Badalona, Spain

Locations

  • Spain

Companies

  • N/A

Study Components

Therapeutic Area

  • Genetic Disorder

  • Musculoskeletal

  • Urology

  • Cardiovascular (CVS)

Disease

  • Atrial septal defect

  • Cryptorchidism

  • Heart muscle disease

  • Isolated short stature

  • Syringomyelia

Biomarkers

  • Growth Hormone 1

  • Insulin Like Growth Factor Binding Protein 3

  • Insulin-like growth factor 1

Drug/Treatment

  • hGH

Outcome

  • N/A

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

Copyright © 2026. QuantiNova All rights reserved