Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency

A novel mutation in the SDHD gene in a f

A novel mutation in the SDHD gene in a family with inherited paragangliomas—implications of genetic diagnosis for follow up and treatment

✍ Laurette Renard; Catherine Godfraind; Laurence M. Boon; Miikka Vikkula 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 188 KB

## Abstract ## Background. Early detection of paragangliomas (PGs) has been linked to low morbidity after surgical resection. Recent identification of causative genes (__SDHB, SDHC,__ and __SDHD__) has made it possible to detect individuals at high risk for tumors. ## Methods. We identified a th