{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T11:33:02Z","timestamp":1779103982104,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,9,3]],"date-time":"2015-09-03T00:00:00Z","timestamp":1441238400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"PSF-Islamabad"},{"name":"HEC-Pakistan"},{"name":"Bo\u011fazi\u00e7i University Research Fund","award":["7695"],"award-info":[{"award-number":["7695"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different <jats:italic>RBBP8<\/jats:italic> mutations. We report on a consanguineous Pakistani family with homozygous <jats:italic>RBBP8<\/jats:italic> mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37299","type":"journal-article","created":{"date-parts":[[2015,9,3]],"date-time":"2015-09-03T06:40:15Z","timestamp":1441262415000},"page":"3148-3152","source":"Crossref","is-referenced-by-count":5,"title":["<i>RBBP8<\/i> syndrome with microcephaly, intellectual disability, short stature and brachydactyly"],"prefix":"10.1002","volume":"167","author":[{"given":"Sara","family":"Mumtaz","sequence":"first","affiliation":[{"name":"Department of Animal Sciences, Human Genetics Program, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esra","family":"Y\u0131ld\u0131z","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics Bo\u011fazi\u00e7i University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saliha","family":"Jabeen","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences, Human Genetics Program, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amjad","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences, Human Genetics Program, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asl\u0131han","family":"Tolun","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics Bo\u011fazi\u00e7i University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sajid","family":"Malik","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences, Human Genetics Program, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,9,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2014.01.027"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0021932014000558"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200701"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0452-x"},{"key":"e_1_2_6_6_1","first-page":"301","article-title":"Consanguinity and its sociodemographic differentials in Bhimber District, Azad Jammu and Kashmir, Pakistan","volume":"32","author":"Jabeen N","year":"2014","journal-title":"J Health Popul Nutr"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/504640"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002310"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06337"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.160572.113"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/429930"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37299","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37299","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:29:19Z","timestamp":1696634959000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37299"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,3]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["10.1002\/ajmg.a.37299"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37299","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9,3]]}}}