Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients

The association of uniparental disomy (UPD) and short stature has been reported for different chromosomes and in several conditions. Therefore, we investigated a cohort of 21 patients referred because of intrauterine and postnatal growth retardation for UPD of chromosomes 2, 7, 9, 14, 16, and 20. Ty...

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Autori principali: Eggermann, T., Mergenthaler, S., Eggermann, K., Albers, A., Linnemann, K., Fusch, C., Ranke, M., Wollmann, H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2001
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734807/
https://ncbi.nlm.nih.gov/pubmed/11158171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.2.86
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