Síndrome de Smith-Lemli-Opitz -- Relato de caso.

Smith-Lemli-Opitz syndrome (SLOS), described in 1964, is a developmental disorder caused by a defect in the final stages of the cholesterol biosynthesis pathway. It is an autosomal recessive syndrome, which is characterized by mutations in the DHCR7 gene responsible for encoding the enzyme delta-7-d...

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Publicado en:	Revista de Medicina e Saúde de Brasília Vol. 4; no. 3; pp. 300 - 312
Autores principales:	Alevato Donadon, Rebeca, de Oliveira e. Souza, Anita, Sousa da Silva, Marina, Britto Perdigão, Wrssula, Bruno Inácio, Juliana, Brito Pogue, Huri, Pogue, Robert, de Oliveira Cardoso, Maria Teresinha
Formato:	Artículo
Publicado:	Revista de Medicina e Saúde de Brasília 2015
Acceso en línea:	Ver este registro en EBSCOhost