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...

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Những tác giả chính: Kishore Kumar, Anikha Bellad, Pramada Prasad, Satish Chandra Girimaji, Babylakshmi Muthusamy
Định dạng: Bài viết
Ngôn ngữ:English
Được phát hành: BMC 2020-06-01
Loạt:BMC Medical Genetics
Những chủ đề:
Neonatal death
Premature termination of pregnancy
Prenatal diagnosis
KIAA clones
Mental retardation
Miscarriages
Truy cập trực tuyến:http://link.springer.com/article/10.1186/s12881-020-01074-2

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

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