Celestino, Ricardo

A novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney-Stratakis dyad. [electronic resource] - Familial cancer Jun 2012 - 189-94 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1573-7292

10.1007/s10689-011-9499-x doi


Adult
Amino Acid Substitution
Asparagine--genetics
Family
Female
Gastrointestinal Neoplasms--genetics
Gastrointestinal Stromal Tumors--genetics
Germ-Line Mutation
Humans
Isoleucine--genetics
Male
Middle Aged
Paraganglioma, Extra-Adrenal--etiology
Succinate Dehydrogenase--genetics