Williams Syndrome: A Case Series.
Indian Pediatr
;
2014 May; 51(5): 411-412
Artigo
em Inglês
| IMSEAR
| ID: sea-170626
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2014
Tipo de documento:
Artigo
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