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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Main Authors: Kishore Kumar (Author), Anikha Bellad (Author), Pramada Prasad (Author), Satish Chandra Girimaji (Author), Babylakshmi Muthusamy (Author)
Format: Book
Published: BMC, 2020-06-01T00:00:00Z.
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3rd Floor Main Library

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