Article
Laboratory investigations in genetic syndromes: examples of clinical approach in the neonatal unit.
Minerva pediatrica - 1 Jun 2010
De Sanctis L, Giuffrè M
Abstract excerpt
Contiguous gene deletion syndromes: the importance of an accurate genetic definition for a careful clinical monitoring. Contiguous gene deletion syndromes are so named because the deletion manifests as a distinctive cluster of otherwise unrelated single-gene disorders in the same subject. An accurate genetic definition of the deleted region is extremely important for the appropriate management of these patients...
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