Diastrophic dysplasia: prenatal diagnosis and review of the literature Displasia diastrófica: diagnóstico pré-natal e revisão da literatura

CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene). Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in...

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Hlavní autoři:	Jonathan Celli Honório, Rafael Frederico Bruns, Luciana Fernandes Gründtner, Salmo Raskin, Lilian Pereira Ferrari, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Associação Paulista de Medicina 2013-04-01
Edice:	São Paulo Medical Journal
Témata:	Diagnóstico pré-natal Osteocondrodisplasias Ultrassonografia Mutação Loci gênicos Prenatal diagnosis Osteochondrodysplasias Ultrasonography Mutation Genetic loci
On-line přístup:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802013000200127
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