{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T21:54:38Z","timestamp":1764194078136},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,5,5]],"date-time":"2014-05-05T00:00:00Z","timestamp":1399248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"none reported"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec><jats:label \/><jats:p>We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non\u2010polyalanine repeat mutation. This family demonstrates extreme phenotypic variability and autosomal dominant transmission over three generations not previously reported in the wider literature. Novel findings also inclue a history of recurrent second trimester miscarriage. <jats:bold>Pediatr Pulmonol. 2014; 49:E140\u2013E143.<\/jats:bold> \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.23051","type":"journal-article","created":{"date-parts":[[2014,5,5]],"date-time":"2014-05-05T04:18:37Z","timestamp":1399263517000},"source":"Crossref","is-referenced-by-count":13,"title":["A case of congenital central hypoventilation syndrome in a three\u2010generation family with non\u2010polyalanine repeat <i>PHOX2B<\/i> mutation"],"prefix":"10.1002","volume":"49","author":[{"given":"K.J.","family":"Low","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics UHBristol NHS Trust, St Michaels Hospital Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.R.","family":"Turnbull","sequence":"additional","affiliation":[{"name":"National Grid Trainee in Paediatric Respiratory Medicine, Department of Paediatric Respiratory Medicine Bristol Royal Hospital for Children Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.R.","family":"Smith","sequence":"additional","affiliation":[{"name":"Bristol Genetics Laboratory, Department of Pathology Sciences Southmead Hospital Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.N.","family":"Hilliard","sequence":"additional","affiliation":[{"name":"Department of Paediatric Respiratory Medicine Bristol Royal Hospital for Children Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.J.","family":"Hole","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Gloucester Royal Hospital Gloucester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.J.","family":"Meecham Jones","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Gloucester Royal Hospital Gloucester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.M.","family":"Williams","sequence":"additional","affiliation":[{"name":"Bristol Genetics Laboratory, Department of Pathology Sciences Southmead Hospital Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Donaldson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics UHBristol NHS Trust Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,5,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20527"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/20700"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200807-1069ST"},{"key":"e_1_2_5_5_1","volume-title":"GeneReviews\u2122 (Internet)","author":"Weese\u2010Mayer DE","year":"1993"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35499"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200707-1079OC"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1210659"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi188"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20923"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2013.01.005"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.22790"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.23051","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.23051","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.23051","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T10:14:55Z","timestamp":1696500895000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.23051"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,5]]},"references-count":11,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1002\/ppul.23051"],"URL":"https:\/\/doi.org\/10.1002\/ppul.23051","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,5]]}}}