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A correct and early diagnosis is required to develop a management plan that is appropriate to the patient's needs. Recently only one case of\n                    <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\n                    \u2010linked\n                    <jats:styled-content style=\"fixed-case\">CEP<\/jats:styled-content>\n                    had been reported, describing the trans\u2010acting\n                    <jats:styled-content style=\"fixed-case\">GATA<\/jats:styled-content>\n                    1\u2010\n                    <jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>\n                    216\n                    <jats:styled-content style=\"fixed-case\">W<\/jats:styled-content>\n                    mutation. Here, we have characterized two novel\n                    <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\n                    \u2010linked\n                    <jats:styled-content style=\"fixed-case\">CEP<\/jats:styled-content>\n                    patients, both with misleading hematological phenotypes that include dyserythropoietic anemia, thrombocytopenia, and hereditary persistence of fetal hemoglobin. We compare the previously reported case to ours and propose a diagnostic paradigm for this variant of\n                    <jats:styled-content style=\"fixed-case\">CEP<\/jats:styled-content>\n                    . Finally, a correlation between phenotype variability and the presence of modifier mutations in loci related to disease\u2010causing gene is described.\n                  <\/jats:p>","DOI":"10.1111\/ejh.12452","type":"journal-article","created":{"date-parts":[[2014,9,23]],"date-time":"2014-09-23T05:43:01Z","timestamp":1411450981000},"page":"491-497","source":"Crossref","is-referenced-by-count":41,"title":["Congenital erythropoietic porphyria linked to\n                    <scp>GATA<\/scp>\n                    1\u2010\n                    <scp>R<\/scp>\n                    216\n                    <scp>W<\/scp>\n                    mutation: challenges for diagnosis"],"prefix":"10.1111","volume":"94","author":[{"given":"Elena","family":"Di Pierro","sequence":"first","affiliation":[{"name":"Fondazione IRCCS \u201cC\u00e0\u2010Granda\u201d Ospedale Maggiore Policlinico U.O. di Medicina Interna Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Russo","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche Universit\u00e0 degli Studi di Napoli \u201cFederico II\u201d Naples Italy"},{"name":"CEINGE \u2013 Biotecnologie Avanzate Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep","family":"Karakas","sequence":"additional","affiliation":[{"name":"Division of Hematology\/Oncology Department of Pediatrics Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Brancaleoni","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS \u201cC\u00e0\u2010Granda\u201d Ospedale Maggiore Policlinico U.O. di Medicina Interna Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Gambale","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche Universit\u00e0 degli Studi di Napoli \u201cFederico II\u201d Naples Italy"},{"name":"CEINGE \u2013 Biotecnologie Avanzate Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismail","family":"Kurt","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Clinical Biochemistry \u2010 Laboratory of Porphiria Gulhane Military Academy of Medicine Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. Stuart","family":"Winter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of New Mexico Albuquerque NM USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Granata","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS \u201cC\u00e0\u2010Granda\u201d Ospedale Maggiore Policlinico U.O. di Medicina Interna Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David Rodriguez","family":"Czuchlewski","sequence":"additional","affiliation":[{"name":"Department of Pathology University of New Mexico Albuquerque NM USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concetta","family":"Langella","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche Universit\u00e0 degli Studi di Napoli \u201cFederico II\u201d Naples Italy"},{"name":"CEINGE \u2013 Biotecnologie Avanzate Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Achille","family":"Iolascon","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche Universit\u00e0 degli Studi di Napoli \u201cFederico II\u201d Naples Italy"},{"name":"CEINGE \u2013 Biotecnologie Avanzate Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Domenica","family":"Cappellini","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS \u201cC\u00e0\u2010Granda\u201d Ospedale Maggiore Policlinico U.O. di Medicina Interna Milan Italy"},{"name":"Dipartimento di Scienze Cliniche e di Comunit\u00e0 Universit\u00e0 degli Studi di Milano Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,10,25]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"2103","volume-title":"The Metabolic Basis of Inherited Disease","author":"Kappas A","year":"1995"},{"key":"e_1_2_8_3_1","first-page":"2961","volume-title":"The Molecular and Metabolic Bases of Inherited Disease","author":"Anderson KE","year":"2001"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-06-022848"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.4.1215-1227.2005"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.24944"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2008.09.018"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-03-488080"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(84)90192-X"},{"key":"e_1_2_8_11_1","first-page":"S1","article-title":"Diagnosis of Porphyria: recommended methods for peripheral laboratories","volume":"13","author":"Blake D","year":"1992","journal-title":"Clin Biochem Rev"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2009.67"},{"key":"e_1_2_8_13_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20045"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-02-004101"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH03-05-0290"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI10642"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2010.05879.x"},{"key":"e_1_2_8_19_1","unstructured":"LyoumiS DelabyC GedC MillotS KarimZ HaileD DeybachJC deVerneuilH BeumontC PuyH.Characterization of iron metabolism and anemia in a mouse model of congenital erythropoietic porphyria. 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