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 …

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 …

2016年5月1日 · Mutations in the Fumarate Hydratase (FH) gene lead to a defective FH enzyme in the citric acid cycle, causing metabolic derangement, "pseudohypoxic" upregulation of hypoxia …

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 …

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 cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in …

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) or Reed’s Syndrome is one of several rare familial syndromes involving kidney cancer. This is a rare sub-type of kidney …

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 …