Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report

• मुख्य लेखकों: Li'na Fu (लेखक), Yan Liu (लेखक), Yu Chen (लेखक), Yi Yuan (लेखक), Wei Wei (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-02-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...