{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T12:12:51Z","timestamp":1769688771181,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T00:00:00Z","timestamp":1424217600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Microcephaly\u2010capillary malformation syndrome (MIC\u2010CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe microcephaly, early\u2010onset seizures, profound psychomotor disability, and multiple cutaneous capillary lesions. In addition, affected patients have variable dysmorphic facial features and hypoplastic distal phalanges. It is distinctively caused by mutations in a newly characterized gene, <jats:italic>STAMBP<\/jats:italic>, encoding the deubiquitinating (DUB) isopeptidase that has a key role in cell surface receptor\u2010mediated endocytosis and sorting. Herein, we describe an Arab family of two siblings with classic features of MIC\u2010CAP syndrome that harbor a novel predicted splice mutation in <jats:italic>STAMBP<\/jats:italic>, which additionally display previously unreported findings of congenital hypothyroidism and alopecia areata. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36782","type":"journal-article","created":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T11:48:48Z","timestamp":1424260128000},"page":"805-809","source":"Crossref","is-referenced-by-count":13,"title":["Novel <i>STAMBP<\/i> mutation and additional findings in an Arabic family"],"prefix":"10.1002","volume":"167","author":[{"given":"Eissa A.","family":"Faqeih","sequence":"first","affiliation":[{"name":"Section of Medical Genetics Children's Hospital King Fahad Medical City Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laila","family":"Bastaki","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Centre Maternity Hospital Safat 13041 Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rasim Ozgur","family":"Rosti","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Pediatrics Howard Hughes Medical Institute University of California San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily G.","family":"Spencer","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Pediatrics Howard Hughes Medical Institute University of California San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"AbdulAli P.","family":"Zada","sequence":"additional","affiliation":[{"name":"Department of Pathology and Clinical Laboratory Medicine King Fahad Medical City Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad A. M.","family":"Saleh","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics Children's Hospital King Fahad Medical City Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyongmi","family":"Um","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Pediatrics Howard Hughes Medical Institute University of California San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph G.","family":"Gleeson","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Pediatrics Howard Hughes Medical Institute University of California San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.10.032"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.52.32785"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34149"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33841"},{"key":"e_1_2_6_6_1","first-page":"495","article-title":"Neurocutaneous syndromes","volume":"13","author":"Dahan D","year":"2002","journal-title":"Adolesc Med"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3003544"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/379793"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.122354499"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34048"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.21.24.8626-8637.2001"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.58.2.218"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/348546"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2006.01.010"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.10.068"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000131011.61648.93"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2005.11.073"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2602"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34118"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn420"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-199103000-00003"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.27.19129"}],"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.36782","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36782","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:27:10Z","timestamp":1696606030000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36782"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,18]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1002\/ajmg.a.36782"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36782","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,18]]}}}