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Autor:
Laurens G. Wilming, Angelique L. C. T. van Rijswijk, Frank Grosveld, C. A. Sylvia Snoeren, Carel Meijers
Publikováno v:
Human Molecular Genetics, 6(2), 247-258. Oxford University Press
A wide spectrum of birth defects is caused by deletions of the DiGeorge syndrome chromosomal region at 22q11. Characteristic features include cranio-facial, cardiac and thymic malformations, which are thought to arise from disturbances in the interac