{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:16:29Z","timestamp":1761707789840},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3963,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked reticulate pigmentary disorder (PDR), previously reported as X\u2010linked cutaneous amyloidosis (MIM#301220), is characterized by brown pigmentation of the skin which follows the lines of Blaschko in females but appears as reticulate sheets in males. Males may suffer severe gastrointestinal disorders in infancy with failure to thrive and early death. Nowadays symptomatic treatment allows survival and other manifestations may appear such as corneal dystrophy with severe photophobia or chronic respiratory disease. Amyloid deposition in the skin may be no more than an age\u2010dependent secondary manifestation. The <jats:italic>PDR<\/jats:italic> gene was localised by linkage analysis to Xp21\u2010p22. The background genetic map is Xpter\u2010<jats:italic>DXS996<\/jats:italic>\u201022.5\u2010<jats:italic>DXS207<\/jats:italic>\u20103.3\u2010<jats:italic>DXS999<\/jats:italic>\u20103.3\u2010<jats:italic>DXS365<\/jats:italic>\u201014.2\u2010<jats:italic>DXS989<\/jats:italic>\u20104.1\u20103\u2032DMD\u20103.5\u2010<jats:italic>DXS997<\/jats:italic>\u20101.0\u2010STR44\u20109.3\u2010<jats:italic>DYSI<\/jats:italic>\u20102.3\u2010<jats:italic>DXS1068<\/jats:italic>\u201011.0\u2010<jats:italic>DXS228<\/jats:italic> with distances between markers given in cM. Recombinants detected with <jats:italic>DXS999<\/jats:italic> distally and <jats:italic>DXS228<\/jats:italic> proximally, define the limits to the localisation. Linkage was found with several markers within this interval. Peak lod scores of 3.21 at \u03b8 = 0.0 were obtained between <jats:italic>PDR<\/jats:italic> and <jats:italic>DXS989<\/jats:italic> and between <jats:italic>PDR<\/jats:italic> and 5\u2032<jats:italic>DYSI<\/jats:italic> within the dystrophin locus. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320520115","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:57:29Z","timestamp":1118537849000},"page":"75-78","source":"Crossref","is-referenced-by-count":23,"title":["Localisation of the gene for X\u2010linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X\u2010linked cutaneous amyloidosis"],"prefix":"10.1002","volume":"52","author":[{"given":"A. K.","family":"Gedeon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. 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