Functional analysis of a novel nonsense PPP1R12A variant in a Chinese family with infantile epilepsy
Abstract Background Defects in PPP1R12A can lead to genitourinary and/or brain malformation syndrome (GUBS). GUBS is primarily characterized by neurological or genitourinary system abnormalities, but a few reported cases are associated with neonatal seizures. Here, we report a case of a female newbo...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
BMC,
2024-09-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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