Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report
Abstract Background Mutations in the PIGV, PIGO, PIGL, PIGY, PGAP2, PGAP3, and PIGW genes have recently been reported to cause hyperphosphatasia accompanied by mental retardation syndrome (HPMRS); the latter is an autosomal-recessive neurological disorder typically characterised by recurrent seizure...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
BMC,
2019-02-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |