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Limited Diagnostic Utility of PRDM10 Analysis in Birt–Hogg–Dubé Syndrome: Experience in 313 Consecutive Patients
Author(s) -
Hercent Agathe,
Ba Ibrahima,
Tchernitchko Dimitri
Publication year - 2025
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.14737
Subject(s) - birt–hogg–dubé syndrome , folliculin , medicine , cohort , genetics , biology , surgery , pneumothorax , gene
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.
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