KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature

Abstract Background Alkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental delay. KIAA1109, a functionally uncharacterized gene is identified as the...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Kishore Kumar, Anikha Bellad, Pramada Prasad, Satish Chandra Girimaji, Babylakshmi Muthusamy
Формат: Өгүүллэг
Хэл сонгох:English
Хэвлэсэн: BMC 2020-06-01
Цуврал:BMC Medical Genetics
Нөхцлүүд:
Neonatal death
Premature termination of pregnancy
Prenatal diagnosis
KIAA clones
Mental retardation
Miscarriages
Онлайн хандалт:http://link.springer.com/article/10.1186/s12881-020-01074-2

Интернэт

http://link.springer.com/article/10.1186/s12881-020-01074-2

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