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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	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
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Elsevier 2021-05-01
Цуврал:	Radiology Case Reports
Нөхцлүүд:	Joubert syndrome ciliopathy CEP290 molar tooth sign MRI
Онлайн хандалт:	http://www.sciencedirect.com/science/article/pii/S1930043321000947
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!