Where Birt-Hogg-Dubé meets Cowden Syndrome: Mirrored genetic defects in two cases of syndromic oncocytic tumours

European Journal of Human Genetics

Volumn 21, Issue 10, 2013, Pages 1169-1172

  Pradella, Laura Maria ^a   Lang, Martin ^a   Kurelac, Ivana ^a   Mariani, Elisa ^a   Guerra, Flora ^a   Zuntini, Roberta ^a   Tallini, Giovanni ^b   Mackay, Alan ^c   Reis Filho, Jorge S ^c   Seri, Marco ^a   Turchetti, Daniela ^a   Gasparre, Giuseppe ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

Birt Hogg Dub ; Cowden Syndrome; FLCN; oncocytoma; PTEN

Indexed keywords

ALLELE; ARTICLE; BIRT HOGG DUBE SYNDROME; CARCINOGENESIS; CASE REPORT; CHROMOSOMAL INSTABILITY; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COWDEN SYNDROME; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; HETEROZYGOSITY LOSS; HUMAN; ONCOCYTOMA; PAROTID GLAND TUMOR; POINT MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID TUMOR; WILD TYPE;

ADENOMA, OXYPHILIC; ALLELES; BIRT-HOGG-DUBE SYNDROME; CARCINOGENESIS; CHROMOSOMAL INSTABILITY; HAMARTOMA SYNDROME, MULTIPLE; HETEROZYGOTE; HUMANS; MALE; PAROTID NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS; PTEN PHOSPHOHYDROLASE; THYROID NEOPLASMS; TUMOR SUPPRESSOR PROTEINS;

EID: 84884597078     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.8     Document Type: Article

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