{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T05:20:03Z","timestamp":1768540803325,"version":"3.49.0"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"DOI":"10.1055\/s-0036-1578799","type":"journal-article","created":{"date-parts":[[2016,3,8]],"date-time":"2016-03-08T02:28:56Z","timestamp":1457404136000},"page":"182-186","source":"Crossref","is-referenced-by-count":9,"title":["Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure"],"prefix":"10.1055","volume":"47","author":[{"given":"Sebastian","family":"Brenner","sequence":"first","affiliation":[{"name":"Klinik und Poliklinik f\u00fcr Kinder- und Jugendmedizin, Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t Dresden, Fetscherstra\u00dfe, Dresden, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meinolf","family":"Suttorp","sequence":"first","affiliation":[{"name":"Klinik und Poliklinik f\u00fcr Kinder- und Jugendmedizin, Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t Dresden, Fetscherstra\u00dfe, Dresden, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Hahn","sequence":"first","affiliation":[{"name":"Bereich Kinderradiologie, Institut und Poliklinik f\u00fcr Radiologische Diagnostik, Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t Dresden, Fetscherstra\u00dfe, Dresden, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heike","family":"Sch\u00fctzle","sequence":"first","affiliation":[{"name":"Klinik und Poliklinik f\u00fcr Kinder- und Jugendmedizin, Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t Dresden, Fetscherstra\u00dfe, Dresden, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Dinger","sequence":"first","affiliation":[{"name":"Klinik und Poliklinik f\u00fcr Kinder- und Jugendmedizin, Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t Dresden, Fetscherstra\u00dfe, Dresden, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nataliya","family":"Di Donato","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Klinische Genetik, Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t Dresden, Fetscherstra\u00dfe, Dresden, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"Mackenroth","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Klinische Genetik, Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t Dresden, Fetscherstra\u00dfe, Dresden, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"von der Hagen","sequence":"first","affiliation":[{"name":"Abteilung Neurop\u00e4diatrie, Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t Dresden, Fetscherstra\u00dfe, Dresden, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Dehmel","sequence":"additional","affiliation":[{"name":"Klinik und Poliklinik f\u00fcr Kinder- und Jugendmedizin, Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t Dresden, Fetscherstra\u00dfe, Dresden, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2016,3,7]]},"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0036-1578799.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,22]],"date-time":"2017-05-22T19:26:37Z","timestamp":1495481197000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0036-1578799"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,7]]},"references-count":0,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2016,5,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0036-1578799","relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,7]]}}}