Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test
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Tarih
2019
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Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Hereditary neuropathy with a liability to pressure palsies (HNPP) represented by recurrent focal pressure neuropathies is rare in childhood. Here we present a 10-year-old girl admitted to our hospital with a recurrent weakness in her foot and diagnosed as HNPP with a quick Multiplex Ligation-dependent Probe Amplification test revealing PMP22 deletion.
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Kaynak
The Journal of Pediatric Research
WoS Q Değeri
Scopus Q Değeri
Cilt
6
Sayı
2
