Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

Uniparental disomy (UPD)-the inheritance of two homologous chromosomes from a single parent-may be unmasked in humans by the unexpected appearance of developmental abnormalities, genetic disorders resulting from genomic imprinting, or recessive traits. Here we report a female patient with familial c...

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Main Authors: Benlian, P., Foubert, L., Gagné, E., Bernard, L., De Gennes, J. L., Langlois, S., Robinson, W., Hayden, M.
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Human Genetics 1996
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914726/
https://ncbi.nlm.nih.gov/pubmed/8755931
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