Carney Stratakis syndrome in a patient with SDHD mutation.
Department of Diabetes and Endocrinology, Guy's and St Thomas' Foundation Trust, St Thomas' Hospital, London, UK. carmentenoriojimenez@hotmail.com
Carmen
C
Tenorio Jiménez
Louise
L
Izatt
Fuju
F
Chang
Mufaddal T
MT
Moonim
Paul V
PV
Carroll
Barbara M
BM
McGowan
D000315:Adrenalectomy; D000328:Adult; D018389:Codon, Nonsense; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D018095:Germ-Line Mutation; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D010235:Paraganglioma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D013385:Succinate Dehydrogenase / Q000235:genetics*; D014057:Tomography, X-Ray Computed
D018389:Codon, Nonsense; C491545:SDHD protein, human; D013385:Succinate Dehydrogenase