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Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements

OBJECTIVE—To review all cases with segmental and/or complex uniparental disomy (UPD), to study aetiology and mechanisms of formation, and to draw conclusions.
DESIGN—Searching published reports in Medline.
RESULTS—The survey found at least nine cases with segmental UPD and a normal karyotype, 22 cas...

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Bibliografische gegevens
Hoofdauteur: Kotzot, D.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Group 2001
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734925/
https://ncbi.nlm.nih.gov/pubmed/11483637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.8.497
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