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Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.
A previously unreported family in which seven members in two generations have Beckwith-Wiedemann syndrome (BWS) is documented. Paternal imprinting of the gene responsible for BWS is involved as the mechanism responsible for the aberrant inheritance pattern in this kindred. A review of published repo...
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| Udgivet i: | J Med Genet |
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| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Publishing Group
1992
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015916/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1583639/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.4.221 |
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