Article
Williams syndrome: a case series.
Indian pediatrics - 1 May 2014
Kandasamy Subapriya, Saxena Deepti, Kishore Yougal, Phadke Shubha R
Abstract excerpt
Pediatricians awareness about malformation syndromes can help in their timely diagnosis. Williams syndrome is a microdeletion syndrome associated with characteristic facial features and behavioral phenotype. Diagnosis can be confirmed by fluorescence-in-situ hybridization or multiplex ligation probe amplification. Correct diagnosis can help in diagnosing hypercalcemia and cardiac defects, and providing genetic...
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