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  1. Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours

    Mutations in succinate dehydrogense-B (SDHB) and the von Hippel Lindau (VHL) genes result in an increased risk of developing chromaffin tumours via a common aetiological pathway. The aim of the current retrospective study was to compare the clinical

  2. Conditions

    175100. APC. 611731. Paraganglioma 4 (PGL4). 1115310. SDHB. 185470. Li-Fraumeni Syndrome.

  3. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated...

    Isolated complex II deficiency is a rare form of mitochondrial disease, accounting for approximately 2% of all respiratory chain deficiency diagnoses. The succinate dehydrogenase (SDH) genes (SDHA, SDHB, SDHC and SDHD) are autosomally-encoded and

  4. Pituitary Carcinoma in a Patient with an SDHB Mutation.

    We present the first case of pituitary carcinoma occurring in a patient with a succinate dehydrogenase subunit B (SDHB) mutation and history of paraganglioma. She was initially treated for a glomus tumour with external beam radiotherapy. Twenty-five

  5. Long-term prognosis of patients with pediatric pheochromocytoma.

    A third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carry germline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, TMEM127, and MAX. Despite increasing importance, data for

  6. SDHA mutated paragangliomas may be at high risk of metastasis.

    We report the clinical outcomes of eleven patients with succinate dehydrogenase subunit A (SDHA) germline mutations from three UK tertiary referral centres to highlight a more diverse and expanding clinical spectrum of associated phenotypes. We

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