Penetrance and clinical consequences of a gross SDHB deletion in a large family

Clinical Genetics

Volumn 75, Issue 4, 2009, Pages 354-363

  Solis, D C ^a   Burnichon, N ^b,c,d   Timmers, H J L M ^a,e   Raygada, M J ^a   Kozupa, A ^a   Merino, M J ^f   Makey, D ^a   Adams, K T ^a   Venisse, A ^b   Gimenez Roqueplo, A P ^b,c,d   Pacak, Karel ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^c INSERM   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Paraganglioma; Penetrance; Pheochromocytoma; SDHB deletion; Succinate dehydrogenase subunit B

Indexed keywords

CATECHOLAMINE; SUCCINATE DEHYDROGENASE;

ADOLESCENT; ADULT; AGED; ARTICLE; CATECHOLAMINE BLOOD LEVEL; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MALE; MALIGNANT NEOPLASTIC DISEASE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PARAGANGLIOMA; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROSPECTIVE STUDY; RETROSPECTIVE STUDY; TUMOR LOCALIZATION;

ADULT; EXONS; FAMILY HEALTH; FEMALE; HUMANS; MALE; PARAGANGLIOMA; PEDIGREE; PENETRANCE; PHENOTYPE; PROTEIN SUBUNITS; SEQUENCE DELETION; SUCCINATE DEHYDROGENASE;

EID: 65249132204     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01157.x     Document Type: Article

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