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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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Автори: Jonathan Celli Honório, Rafael Frederico Bruns, Luciana Fernandes Gründtner, Salmo Raskin, Lilian Pereira Ferrari, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza
Формат: Artigo
Мова:Inglês
Опубліковано: Associação Paulista de Medicina 2013-04-01
Серія:São Paulo Medical Journal
Предмети:
Diagnóstico pré-natal
Osteocondrodisplasias
Ultrassonografia
Mutação
Loci gênicos
Prenatal diagnosis
Osteochondrodysplasias
Ultrasonography
Mutation
Genetic loci
Онлайн доступ:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802013000200127
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