{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T22:52:06Z","timestamp":1759963926047},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,3,11]],"date-time":"2013-03-11T00:00:00Z","timestamp":1362960000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2013,3]]},"abstract":"Abstract<\/jats:title>P<\/jats:styled-content>elizaeus\u2013M<\/jats:styled-content>erzbacher disease (PMD<\/jats:styled-content>) is a congenital hypomyelination disorder caused by alterations affecting the proteolipid protein 1 gene (PLP<\/jats:styled-content>1<\/jats:italic>) located on X<\/jats:styled-content>q22.2. Generally, patients with PLP<\/jats:styled-content>1<\/jats:italic> missense mutations show the most severe form of PMD<\/jats:styled-content> (connatal form); however, two\u2010thirds of patients with PMD<\/jats:styled-content> carry PLP<\/jats:styled-content>1<\/jats:italic> duplications and present typical manifestations of the disorder, recognized as the classical form. Other rare PLP<\/jats:styled-content>1<\/jats:italic> abnormalities have been also identified, including X<\/jats:styled-content>\u2010chromosome translocations, triplications, and a partial duplication, all involving PLP<\/jats:styled-content>1<\/jats:italic>. The genomic structure of the distal end of the PLP<\/jats:styled-content>1<\/jats:italic> locus, characterized by repeated genomic segments, contributes to the chromosomal rearrangements around PLP<\/jats:styled-content>1<\/jats:italic> and the manifestation of PMD<\/jats:styled-content>. Thus, PMD<\/jats:styled-content> is recognized as a chromosomal disorder.<\/jats:p>","DOI":"10.1111\/cga.12005","type":"journal-article","created":{"date-parts":[[2012,11,20]],"date-time":"2012-11-20T13:44:10Z","timestamp":1353419050000},"page":"3-8","source":"Crossref","is-referenced-by-count":20,"title":["P<\/scp>elizaeus\u2013M<\/scp>erzbacher disease as a chromosomal disorder"],"prefix":"10.1111","volume":"53","author":[{"given":"Toshiyuki","family":"Yamamoto","sequence":"first","affiliation":[{"name":"Institute for Integrated Medical Sciences Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Shimojima","sequence":"additional","affiliation":[{"name":"Institute for Integrated Medical Sciences Tokyo Women's Medical University Tokyo 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