遗传性平滑肌瘤病和肾细胞癌 (HLRCC)是一种主要由编码延胡索酸水合酶的 FH基因 胚系突变所引起的常染体显性遗传病。 致病机制研究涉及到 TCA 循环 、 氧化应激 促进和代谢改变等等 …

2024年11月6日 · Evidence-based, expert-reviewed summary about hereditary leiomyomatosis and renal cell cancer (HLRCC), including information about the FH gene. This summary also …

2006年7月31日 · FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma …

2024年10月1日 · HLRCC, an autosomal dominant condition caused by germline P/LP variants in the fumarate hydratase (FH) gene, is characterized by multiple cutaneous and uterine …

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is an autosomal dominant disorder in which germline mutations of fumarate hydratase (FH) gene confer an …

HLRCC is caused by germline mutations in the fumarate hydratase (FH) gene, which inactivates the enzyme and alters the function of the tricarboxylic acid (TCA/ Krebs) cycle. Issues …

2021年6月9日 · 遗传性平滑肌瘤病和肾细胞癌综合征(hereditary leiomyomatosis and renal cell cancer, HLRCC)是一种常染色体显性遗传性家族性疾病,也称为Reed综合征，与延胡索酸 …

Mutations in the FH gene cause HLRCC. The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). This enzyme participates in an …

Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a genetic condition that affects multiple organs, including the skin, uterus, and kidneys. HLRCC is caused by …

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is an autosomal dominant hereditary cancer syndrome with incomplete penetrance. It is caused by a germline amorphic allele of the …