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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Format: | Book |
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BMC,
2020-06-01T00:00:00Z.
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A1234.567 |
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