Results 11 to 18 of about 20 (18)
Prenatal diagnosis of a lethal osteochondrodysplasia: short rib syndrome and polydactyly type I
Acta Médica del Centro, 2015 Osteochondrodysplasias is characterized by the shortening of the long bones. There are parameters that help to identify the specific type of skeletal dysplasia, but despite technological advances the differential diagnosis between them is a challenge. It
Ana Esther Algora Hernández +3 more
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Congenital spondyloepiphyseal dysplasia
Revista de Ciencias Médicas de Pinar del Río, 2017 Introduction: congenital spondyloepiphyseal dysplasia, a type of bone dysplasia manifest from the infancy stage, is caused by mutations in the COL2A1 gene, located on chromosome 12, causing defects in type II collagen, a major component of cartilage ...
Elayne Esther Santana
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São Paulo Medical Journal, 2013 CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Jonathan Celli Honório +6 more
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El cilio primario y su disfunción en desarrollo de las osteocondrodisplasias.
, 2017 El cilio primario es una organela microtubular con estructura 9+0, la cual se encuentra en la mayoría de las células de los mamíferos. El cilio primario actúa como una antena sensorial que permite el desarrollo y mantenimiento de los distintos tejidos del organismo. Su disfunción origina un grupo de enfermedades llamadas ciliopatías. En este trabajo se
Castillo Aguirre, Paula +3 more
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Estudo genético-clínico das displasias esqueléticas, com enfoque nas osteocondrodisplasias com acometimento do esqueleto axial, associado ao envolvimento epifisário e/ou metafisário [PDF]
, 2018 openaire +1 more source
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Estudo clínico-epidemiológico das osteocondrodisplasias de manifestação perinatal na América do Sul
2021openaire +1 more source