Document Detail


Evidence for inheritance in patients with VACTERL association.
MedLine Citation:
PMID:  20369369     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
VACTERL/VATER association is typically a sporadic disorder. We present data on inheritance in 78 probands with VACTERL association, and show that 9% of probands have a primary relative with at least one component feature of VACTERL association. The prevalence of component features in first-degree relatives is significantly higher than expected in the general population, which has implications for counseling of affected families and for research into possible etiologies.
Authors:
Benjamin D Solomon; Daniel E Pineda-Alvarez; Manu S Raam; Derek A T Cummings
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Intramural     Date:  2010-04-06
Journal Detail:
Title:  Human genetics     Volume:  127     ISSN:  1432-1203     ISO Abbreviation:  Hum. Genet.     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-05-17     Completed Date:  2010-06-14     Revised Date:  2012-03-08    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  731-3     Citation Subset:  IM    
Affiliation:
Medical Genetics Branch, National Human Genome Research Institute, NIH MSC 3717, Bethesda, MD 20892, USA. solomonb@mail.nih.gov
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / epidemiology*,  genetics*
Family
Female
Genetic Testing
Heredity*
Humans
Male
Prevalence
Grant Support
ID/Acronym/Agency:
Z99 HG999999/HG/NHGRI NIH HHS
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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