Diastrophic dysplasia: prenatal diagnosis and review of the literature

Diastrophic dysplasia: prenatal diagnosis and review of the literature

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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Bibliographic Details
Main Authors: Jonathan Celli Honório, Rafael Frederico Bruns, Luciana Fernandes Gründtner, Salmo Raskin, Lilian Pereira Ferrari, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza
Format: Article
Language:English
Published: Associação Paulista de Medicina
Series:São Paulo Medical Journal
Subjects:
Prenatal diagnosis
Osteochondrodysplasias
Ultrasonography
Mutation
Genetic loci
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802013000200127&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802013000200127&lng=en&tlng=en

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