{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T04:24:39Z","timestamp":1782879879064,"version":"3.54.5"},"reference-count":6,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,6]],"date-time":"2020-04-06T00:00:00Z","timestamp":1586131200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["RVO\u2010VFN64165\/2012"],"award-info":[{"award-number":["RVO\u2010VFN64165\/2012"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine\u2010kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss\u2010of\u2010function mutations in <jats:italic>EGFR<\/jats:italic> lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440\u20131470\u00a0g and multisystem diseases due to the homozygous mutation c.1283G\u02c3A (p.Gly428Asp) in <jats:italic>EGFR.<\/jats:italic> They presented with thin, translucent, fragile skin (14\/15), skin desquamation (10\/17), ichthyosis (9\/17), recurrent skin infections and sepsis (9\/12), nephromegaly (10\/16) and congenital heart defects (7\/17). Their prognosis was poor, and all died before the age of 6\u00a0months except one 13\u2010year\u2010old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi\u2010like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.<\/jats:p>","DOI":"10.1111\/1346-8138.15317","type":"journal-article","created":{"date-parts":[[2020,4,6]],"date-time":"2020-04-06T13:22:27Z","timestamp":1586179347000},"page":"663-668","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Fatal neonatal nephrocutaneous syndrome in 18 Roma children with <i>EGFR<\/i> deficiency"],"prefix":"10.1111","volume":"47","author":[{"given":"Stella","family":"Mazurova","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine General University Hospital First Medical Faculty Charles University Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marketa","family":"Tesarova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine General University Hospital First Medical Faculty Charles University Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiri","family":"Zeman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine General University Hospital First Medical Faculty Charles University Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktor","family":"Stranecky","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine General University Hospital First Medical Faculty Charles University Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Hansikova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine General University Hospital First Medical Faculty Charles University Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alica","family":"Baxova","sequence":"additional","affiliation":[{"name":"Institute of Biology and Medical Genetics General University Hospital First Medical Faculty Charles University Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Giertlova","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Genetics Medirex Inc. Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Lastuvkova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Masaryk Hospital in Usti nad Labem Regional Health Corporation Usti nad Labem Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanda","family":"Chovanova","sequence":"additional","affiliation":[{"name":"Department of Neonatology Pediatric University Hospital Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Rusnakova","sequence":"additional","affiliation":[{"name":"Department of Neonatology Pediatric University Hospital Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Knapkova","sequence":"additional","affiliation":[{"name":"Newborn Screening Center Slovak Republic Children\u2019s University Hospital Banska Bystrica Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel","family":"Minarik","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics Medirex Inc. Bratislava Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"Honzik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine General University Hospital First Medical Faculty Charles University Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5883-9509","authenticated-orcid":false,"given":"Martin","family":"Magner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine General University Hospital First Medical Faculty Charles University Prague Czech Republic"},{"name":"Department of Pediatrics Thomayer Hospital First Medical Faculty Charles University Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-018-0007-9"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbapap.2009.12.010"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.164"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.156"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-018-0011-0"},{"key":"e_1_2_7_7_1","first-page":"1","article-title":"Cutaneous side\u2010effect of EGFR inhibitors and their management","volume":"16","author":"Ehmann LM","year":"2011","journal-title":"Skin Therapy Lett"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.15317","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.15317","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1346-8138.15317","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.15317","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T03:55:16Z","timestamp":1693972516000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.15317"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,6]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["10.1111\/1346-8138.15317"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.15317","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,6]]},"assertion":[{"value":"2019-12-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}