{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T14:53:26Z","timestamp":1790520806418,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,3,4]],"date-time":"2013-03-04T00:00:00Z","timestamp":1362355200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Italian Ministery of Health"},{"DOI":"10.13039\/501100002803","name":"Fondazione Cariplo","doi-asserted-by":"crossref","award":["2010-0688"],"award-info":[{"award-number":["2010-0688"]}],"id":[{"id":"10.13039\/501100002803","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100005010","name":"Associazione Italiana Ricerca sul Cancro","doi-asserted-by":"crossref","award":["MFAG 11501"],"award-info":[{"award-number":["MFAG 11501"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Heterozygous in frame trinucleotide duplications within the <jats:italic>PHOX2B<\/jats:italic> gene, leading to poly\u2010alanine expansions, cause Congenital Central Hypoventilation Syndrome. Here we report about a CCHS patient, carrying a +13Ala PHOX2B expansion, whose asymptomatic mother resulted with a low level of mosaicism for the same mutation in peripheral blood cells. Her second pregnancy ended with the spontaneous miscarriage of a fetus who had inherited the <jats:italic>PHOX2B<\/jats:italic> mutation, thus confirming germline mosaicism in the mother and the need of proper genetic counseling to CCHS families. <jats:bold>Pediatr Pulmonol. 2014; 49:E45\u2013E47.<\/jats:bold> \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.22790","type":"journal-article","created":{"date-parts":[[2013,3,5]],"date-time":"2013-03-05T00:58:06Z","timestamp":1362445086000},"source":"Crossref","is-referenced-by-count":15,"title":["Recurrence of CCHS associated PHOX2B poly\u2010alanine expansion mutation due to maternal mosaicism"],"prefix":"10.1002","volume":"49","author":[{"given":"Tiziana","family":"Bachetti","sequence":"first","affiliation":[{"name":"U.O.C. Medical Genetics Institute Giannina Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Di Duca","sequence":"additional","affiliation":[{"name":"Laboratory of Pathophysiology of Uremia Institute Giannina Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo Della","family":"Monica","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Gaetano Rummo General Hospital Benevento Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Grappone","sequence":"additional","affiliation":[{"name":"Neonatology and Neonatal Intensive Care Unit Gaetano Rummo General Hospital Benevento Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gioacchino","family":"Scarano","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Gaetano Rummo General Hospital Benevento Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Ceccherini","sequence":"additional","affiliation":[{"name":"U.O.C. Medical Genetics Institute Giannina Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200807-1069ST"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9516"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200707-1079OC"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-010-0718-y"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.015412"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35499"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01383.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200605-607CR"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.22790","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.22790","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.22790","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T06:52:37Z","timestamp":1696488757000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.22790"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,4]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1002\/ppul.22790"],"URL":"https:\/\/doi.org\/10.1002\/ppul.22790","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,4]]}}}