The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family
about
Current approaches and recent developments in the management of head and neck paragangliomas.Paragangliomas and paraganglioma syndromes.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Recent advances in the genetics of SDH-related paraganglioma and pheochromocytomaGenetics of hereditary head and neck paragangliomas.The Penetrance of Paraganglioma and Pheochromocytoma in SDHB germline mutation carriers.High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutationsLoss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
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P2860
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family
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2010 nî lūn-bûn
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2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2010 թվականի հունվարին հրատարակված գիտական հոդված
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2010年の論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年论文
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The Dutch founder mutation SDH ...... large multigenerational family
@ast
The Dutch founder mutation SDH ...... large multigenerational family
@en
The Dutch founder mutation SDH ...... large multigenerational family
@nl
type
label
The Dutch founder mutation SDH ...... large multigenerational family
@ast
The Dutch founder mutation SDH ...... large multigenerational family
@en
The Dutch founder mutation SDH ...... large multigenerational family
@nl
prefLabel
The Dutch founder mutation SDH ...... large multigenerational family
@ast
The Dutch founder mutation SDH ...... large multigenerational family
@en
The Dutch founder mutation SDH ...... large multigenerational family
@nl
P2093
P2860
P356
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The Dutch founder mutation SDH ...... large multigenerational family
@en
P2093
Andel Gl van der Mey
Annette Hjt Vriends
Cees J Cornelisse
Eleonora Pm Corssmit
Erik F Hensen
Jan C Oosterwijk
Jean-Pierre Bayley
Jeroen C Jansen
Maaike D Siemers
P2860
P2888
P356
10.1038/EJHG.2009.112
P407
P577
2010-01-01T00:00:00Z
P5875
P6179
1046143017