Anterior mesencephalic cap dysplasia: Novel brain stem malformative features associated with joubert syndrome

Keyphrases

• Brainstem 100%
• Dysplasia 100%
• Joubert Syndrome 100%
• Mesencephalic 100%
• Malformation 66%
• Mesencephalon 66%
• Compound Heterozygous mutation 33%
• Infratentorial 33%
• White Matter Tracts 33%
• Ciliary Genes 33%
• TMEM67 33%
• Sagittal 33%
• Cardiac Magnetic Resonance Imaging (cMRI) 33%
• Bulge 33%
• Guidance Mechanism 33%
• Interpeduncular Fossa 33%
• Molar Tooth Sign 33%
• Axonal Guidance 33%
• Abnormal Tissue 33%
• Reconstruction Support 33%
• Complete Obliteration 33%
• Missense Variant 33%
• Transverse Orientation 33%

Biochemistry, Genetics and Molecular Biology

• Dysplasia 100%
• Missense 50%
• Reconstruction 50%
• TMEM67 50%
• Magnetic Resonance Imaging 50%

Neuroscience

• Interpeduncular Fossa 33%