The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

European Journal of Human Genetics

Volumn 18, Issue 1, 2010, Pages 62-66

  Hensen, Erik F ^a   Jansen, Jeroen C ^a   Siemers, Maaike D ^a   Oosterwijk, Jan C ^b   Vriends, Annette H J T ^a   Corssmit, Eleonora P M ^a   Bayley, Jean Pierre ^a   Van Der Mey, Andel G L ^a   Cornelisse, Cees J ^a   Devilee, Peter ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

inheritance; Paraganglioma; penetrance; phaeochromocytoma; SDHD

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE; GENE MUTATION; GENETIC COUNSELING; HEAD TUMOR; HUMAN; KAPLAN MEIER METHOD; MAJOR CLINICAL STUDY; MALE; MULTIPLE CANCER; NECK TUMOR; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SDHD GENE; AMINO ACID SUBSTITUTION; FAMILY SIZE; FOUNDER EFFECT; GENETICS; MIDDLE AGED; NETHERLANDS; ONSET AGE; PEDIGREE; PENETRANCE;

SDHD PROTEIN, HUMAN; SUCCINATE DEHYDROGENASE;

ADOLESCENT; ADULT; AGE OF ONSET; AMINO ACID SUBSTITUTION; FAMILY CHARACTERISTICS; FEMALE; FOUNDER EFFECT; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; PARAGANGLIOMA; PEDIGREE; PENETRANCE; SUCCINATE DEHYDROGENASE; YOUNG ADULT;

EID: 77449121207     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.112     Document Type: Article

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