{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T14:30:48Z","timestamp":1791469848686,"version":"4.3.4"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopmental disorder characterized by a significantly reduced head circumference present already at birth and intellectual disability. Inconsistent features include hyperactivity, an expressive speech disorder, and epilepsy. Here, we provide a brief overview on this rare disorder pertinent for clinicians.<\/jats:p>","DOI":"10.1055\/s-0037-1601448","type":"journal-article","created":{"date-parts":[[2017,4,11]],"date-time":"2017-04-11T22:43:23Z","timestamp":1491950603000},"page":"135-142","source":"Crossref","is-referenced-by-count":82,"title":["Autosomal Recessive Primary Microcephaly (MCPH): An Update"],"prefix":"10.1055","volume":"48","author":[{"given":"Deborah","family":"Morris-Rosendahl","sequence":"first","affiliation":[{"name":"Clinical Genetics and Genomics, Royal Brompton & Harefield NHS Foundation Trust, London, United Kingdom"},{"name":"National Heart and Lung Institute, Imperial College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Kaindl","sequence":"first","affiliation":[{"name":"Institute of Cell Biology and Neurobiology, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Campus Mitte, Berlin, Germany"},{"name":"Center for Chronically Sick Children (Sozialp\u00e4diatrisches Zentrum), Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Berlin, Germany"},{"name":"Berlin Institute of Health, Berlin, Germany"},{"name":"Department of Pediatric Neurology, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin,  Campus Virchow-Klinikum, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sami","family":"Zaqout","sequence":"additional","affiliation":[{"name":"Institute of Cell Biology and Neurobiology, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Campus Mitte, Berlin, Germany"},{"name":"Center for Chronically Sick Children (Sozialp\u00e4diatrisches Zentrum), Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Berlin, Germany"},{"name":"Berlin Institute of Health, Berlin, Germany"},{"name":"Department of Pediatric Neurology, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin,  Campus Virchow-Klinikum, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2017,4,11]]},"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0037-1601448.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,12,19]],"date-time":"2017-12-19T06:26:22Z","timestamp":1513664782000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0037-1601448"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,11]]},"references-count":0,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2017,5,25]]},"published-print":{"date-parts":[[2017,6]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0037-1601448","relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,11]]}}}