{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T08:03:37Z","timestamp":1767168217816,"version":"build-2238731810"},"reference-count":8,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100002573","name":"Yonsei University","doi-asserted-by":"publisher","award":["YUWCM-2012-17"],"award-info":[{"award-number":["YUWCM-2012-17"]}],"id":[{"id":"10.13039\/501100002573","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>\n                    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal neuropathy that is commonly caused by a reciprocal 1.5\u2009Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 (\n                    <jats:italic>PMP22<\/jats:italic>\n                    ) 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\n                    <jats:italic>PMP22<\/jats:italic>\n                    . 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.\n                  <\/jats:p>","DOI":"10.1155\/2014\/946010","type":"journal-article","created":{"date-parts":[[2014,11,20]],"date-time":"2014-11-20T16:30:09Z","timestamp":1416501009000},"page":"1-3","source":"Crossref","is-referenced-by-count":2,"title":["Partial Gene Deletions of\n                    <i>PMP22<\/i>\n                    Causing Hereditary Neuropathy with Liability to Pressure Palsies"],"prefix":"10.1155","volume":"2014","author":[{"given":"Sun-Mi","family":"Cho","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9290-6173","authenticated-orcid":true,"given":"Bo Young","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, The Catholic University of Korea, Street Vincent\u2019s Hospital, 93-6 Ji-dong, Paldal-gu, Suwon, Gyeonggi-do 442-723, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoonjung","family":"Kim","sequence":"additional","affiliation":[{"name":"Samkwang Medical Laboratories, 9-60 Yangjae-dong, Seocho-gu, Seoul 137-887, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sang Guk","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin-Young","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 62 Yeouido-dong, Yeongdeungpo-gu, Seoul 150-713, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2010-4491","authenticated-orcid":true,"given":"Juwon","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Yonsei University Wonju College of Medicine, 20 Ilsan-ro, Ilsandong, Wonju, Gangwon-do 220-701, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5320-6705","authenticated-orcid":true,"given":"Kyung-A","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, 712 Eonjuro, Gangnam-gu, Seoul 135-720, Republic of Korea"},{"name":"Department of Rehabilitation, Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, 712 Eonjuro, Gangnam-gu, Seoul 135-720, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00103-0"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.07.002"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2003.12.005"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1002\/glia.20751"},{"key":"5","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1093\/hmg\/3.suppl_1.1503","volume":"3","year":"1994","journal-title":"Human Molecular 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