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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| Autores principales: | , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMC
2019-02-01
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| Colección: | BMC Pediatrics |
| Materias: | |
| Acceso en línea: | http://link.springer.com/article/10.1186/s12887-019-1440-8 |
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