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Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.

Wolf-Hirschhorn syndrome is a clinically recognizable, multiple congenital anomaly syndrome usually associated with terminal deletion of the short arm of chromosome 4. A girl with clinical features of Wolf-Hirschhorn syndrome did not show an obvious deletion of chromosome 4, and a molecular defect w...

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Hlavní autoři: Altherr, M. R., Bengtsson, U., Elder, F. F., Ledbetter, D. H., Wasmuth, J. J., McDonald, M. E., Gusella, J. F., Greenberg, F.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Human Genetics 1991
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1702407/
https://ncbi.nlm.nih.gov/pubmed/1746553
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