A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report
Abstract Background X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems. Mutations in the creatine transporter gene SLC6A8, a member of the solute-carrier...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2018-11-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |