Limited Diagnostic Utility of PRDM10 Analysis in Birt-Hogg-Dubé Syndrome: Experience in 313 Consecutive Patients.

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-03-03 DOI:10.1111/cge.14737

Agathe Hercent, Ibrahima Ba, Dimitri Tchernitchko

引用次数: 0

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.

查看原文本刊更多论文

求助全文

约1分钟内获得全文求助全文

来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease