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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Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2021-05-01
Edice:	Radiology Case Reports
Témata:	Joubert syndrome ciliopathy CEP290 molar tooth sign MRI
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S1930043321000947
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