Germline SDHD mutation in familial phaeochromocytoma.

  title={Germline SDHD mutation in familial phaeochromocytoma.},
  author={Dewi Apri Astuti and Fiona Douglas and T. W. J. Lennard and Irene A. Aligianis and Emma R. Woodward and D Gareth R Evans and Charis Eng and F. Latif and Eamonn R Maher},
  volume={357 9263},
The genetic basis for familial phaeochromocytoma is unknown in many cases. Since the disorder has been reported in some cases of familial head and neck paraganglioma, which is caused by a mutation in the gene encoding succinate dehydrogenase complex subunit D (SDHD), we investigated this gene in kindreds with familial phaeochromocytoma. A germline SDHD frameshift mutation was identified in a two-generation family consisting of four children with phaeochromocytoma, but somatic mutations were not… CONTINUE READING


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