Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report
Abstract Background Kabuki syndrome (KS) is a rare congenital anomaly syndrome affecting multiple organs. Two genes have been shown to be mutated in patients with KS: lysine (K)-specific demethylase 6A (KDM6A) and lysine (K)-specific methyltransferase 2D (KMT2D, formerly MLL2). Although the congenit...
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| Main Authors: | , , |
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| Format: | Book |
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BMC,
2018-12-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |