Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion

Journal of Medical Genetics

Volumn 48, Issue 11, 2011, Pages 779-782

  Pradella, Laura Maria ^a   Zuntini, Roberta ^a   Magini, Pamela ^a   Ceccarelli, Claudio ^a   Neri, Iria ^a   Cerasoli, Serenella ^b   Graziano, Claudio ^a   Gasparre, Giuseppe ^a   Turchetti, Daniela ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b BUFALINI HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 10Q; COWDEN SYNDROME; GANGLIONEUROMA; GENE DELETION; GENE MUTATION; GERM LINE; HUMAN; HUMAN TISSUE; MACROCEPHALY; MALE; MUCOSAL DISEASE; ONCOCYTOMA; PATHOGENESIS; PRIORITY JOURNAL; SKIN DEFECT; THYROID PAPILLARY CARCINOMA; TUMOR SUPPRESSOR GENE;

ADULT; CARCINOMA; CARCINOMA, PAPILLARY; CELL NUCLEUS; CHROMOSOMES, HUMAN, PAIR 10; DNA MUTATIONAL ANALYSIS; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MALE; MITOCHONDRIA; NADH DEHYDROGENASE; OXYPHIL CELLS; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS B-RAF; PTEN PHOSPHOHYDROLASE; THYROID GLAND; THYROID NEOPLASMS;

EID: 81055157811     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100152     Document Type: Article

References (13)

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