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- W1973474923 abstract "Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal neuropathy that is commonly caused by a reciprocal 1.5 Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 ( PMP22 ) gene. Other patients with similar phenotypes have been shown to harbor point mutations or small deletions, although there is some clinical variation across these patients. In this report, we describe a case of HNPP with copy number changes in exon or promoter regions of PMP22 . Multiplex ligation-dependent probe analysis revealed an exon 1b deletion in the patient, who had been diagnosed with HNPP in the first decade of life using molecular analysis." @default.
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- W1973474923 date "2014-01-01" @default.
- W1973474923 modified "2023-10-16" @default.
- W1973474923 title "Partial Gene Deletions ofPMP22Causing Hereditary Neuropathy with Liability to Pressure Palsies" @default.
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- W1973474923 doi "https://doi.org/10.1155/2014/946010" @default.
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