Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population

Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population

Abstract Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder mainly due to a deletion of chromosome 17p11.2 including PMP22 (PMP22 Del HNPP). The prevalence of HNPP is estimated to be 0.84 to 16 per 100,000, but could be underestimated because of the mil...

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Bibliographic Details
Main Authors: Jong Eun Park, Seung-Jae Noh, Mijin Oh, Dae-Yeon Cho, So Young Kim, Chang-Seok Ki
Format: Article
Language:English
Published: BMC 2018-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary neuropathy with liability to pressure palsies (HNPP)
Prevalence
Korean population
Next-generation sequencing-based copy number variation analysis
Online Access:http://link.springer.com/article/10.1186/s13023-018-0779-5

Internet

http://link.springer.com/article/10.1186/s13023-018-0779-5

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