Related Experiment Video
Updated: May 24, 2025
05:16
Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020
6.7K
Limited Diagnostic Utility of PRDM10 Analysis in Birt-Hogg-Dubé Syndrome: Experience in 313 Consecutive Patients
Agathe Hercent1,2, Ibrahima Ba1,3, Dimitri Tchernitchko1
1Department of Genetics, Bichat Hospital (APHP), Reference Laboratory for the Diagnosis of Birt Hogg Dube Syndrome, University of Paris Cité, Paris, France.
Clinical Genetics
|March 3, 2025
Abstract:
This short letter shows the limited diagnostic utility of PRDM10 screening in patients with a clinical suspicion of BHD syndrome. In a cohort of 313 patients with a suspicion of BHD syndrome and no FLCN mutations, none carry a pathogenic PRDM10 variation.
