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Williams syndrome: a case series.
- Source :
-
Indian pediatrics [Indian Pediatr] 2014 May; Vol. 51 (5), pp. 411-2. - Publication Year :
- 2014
-
Abstract
- 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 counseling to the family.
Details
- Language :
- English
- ISSN :
- 0974-7559
- Volume :
- 51
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Indian pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 24953591
- Full Text :
- https://doi.org/10.1007/s13312-014-0416-x