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A case report of Joubert syndrome with renal involvement and seizures in a neonate

Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI). Mutations in the implicated genes, affect proteins integral to cellular struct...

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Kaydedildi:
Asıl Yazarlar: Ilir Ahmetgjekaj, PhD, Masum Rahman, MD, Fjolla Hyseni, MD, Ali Guy, Kulsum Madani, MD, Kristi Saliaj, MD, Angela Guy, MD, PhD, Valon Vokshi, Ina Kola, MD, Juna Musa, MD, MSc
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2021-05-01
Seri Bilgileri:Radiology Case Reports
Konular:
Joubert syndrome
ciliopathy
CEP290
molar tooth sign
MRI
Online Erişim:http://www.sciencedirect.com/science/article/pii/S1930043321000947
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