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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: İskender, Can Tekin, Tarım, Ebru, Alkan, Özlem
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: AVES 2012
Gaiak:
Sarrera elektronikoa: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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