Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients with Paraganglioma.
The Journal of clinical endocrinology and metabolism（2023）
摘要
The germline heterozygous SDHB exon 1 deletion was the most frequent genetic defect in the Brazilian PPGL cohort. Our findings demonstrated a founder effect for the SDHB exon 1 deletion in Brazilian patients with paragangliomas.
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关键词
SDHB,deletion,founder effect,genetics,paraganglioma,pheochromocytoma
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