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Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report
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 seizures, intel...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394075/ https://www.ncbi.nlm.nih.gov/pubmed/30813920 http://dx.doi.org/10.1186/s12887-019-1440-8 |