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Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging
Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by intellectual disability, hypotonia, ataxia, tachypnea/apnea, and abnormal eye movements. A pathognomonic midbrain-hindbrain malformation seen on cranial magnetic resonance imaging (MRI), which consists of hypoplasia of the m...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
AVES
2012
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3939136/ https://ncbi.nlm.nih.gov/pubmed/24592023 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5152/jtgga.2011.75 |
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