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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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Autors principals: İskender, Can Tekin, Tarım, Ebru, Alkan, Özlem
Format: Artigo
Idioma:Inglês
Publicat: AVES 2012
Matèries:
Accés en línia: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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