{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:06:57Z","timestamp":1791295617751,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T00:00:00Z","timestamp":1428537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012553","name":"Chang Gung Memorial Hospital","doi-asserted-by":"crossref","award":["CMRPG4A0141"],"award-info":[{"award-number":["CMRPG4A0141"]}],"id":[{"id":"10.13039\/100012553","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100012553","name":"Chang Gung Memorial Hospital","doi-asserted-by":"crossref","award":["CMRPG391631"],"award-info":[{"award-number":["CMRPG391631"]}],"id":[{"id":"10.13039\/100012553","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100012553","name":"Chang Gung Memorial Hospital","doi-asserted-by":"crossref","award":["CMRPG470071"],"award-info":[{"award-number":["CMRPG470071"]}],"id":[{"id":"10.13039\/100012553","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Moyamoya disease is a unique chronic cerebrovascular condition caused by progressive stenosis of the arteries around the circle of Willis with prominent arterial collateral circulation. Noonan\u2010like syndrome with loose anagen hair (NSLH) is characterized by short stature, characteristic facial phenotype, darkly pigmented and hairless skin, mild psychomotor delay with attention deficit disorder, and easily pluckable, sparse, thin, slow growing hair. Mutations in <jats:italic>SHOC2<\/jats:italic> have been reported to underlie NSLH. In this paper, we describe two individuals with NSLH who also have moyamoya disease and in whom heterozygous germline mutation in <jats:italic>SHOC2<\/jats:italic> was found. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37053","type":"journal-article","created":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T23:05:07Z","timestamp":1428620707000},"page":"1285-1288","source":"Crossref","is-referenced-by-count":24,"title":["Moyamoya disease in two patients with Noonan\u2010like syndrome with loose anagen hair"],"prefix":"10.1002","volume":"167","author":[{"given":"Fu\u2010Sung","family":"Lo","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology and Genetics Department of Pediatrics Chang\u2010Gung Memorial Hospital and Chang Gung University College of Medicine Taoyuan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao\u2010Jan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging and Intervention Chang\u2010Gung Memorial Hospital and Chang Gung University College of Medicine Taoyuan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mun\u2010Ching","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging and Intervention Chang\u2010Gung Memorial Hospital and Chang Gung University College of Medicine Taoyuan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ni\u2010Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medical Genetics National Taiwan University Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.113.004160"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.425"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.04.007"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0036469"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)89980-8"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560226"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25271"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10923"},{"key":"e_1_2_5_10_1","first-page":"140","article-title":"Intracranial aneurysm in association with Noonan's syndrome","volume":"77","author":"McAnena O","year":"1984","journal-title":"Ir Med J"},{"key":"e_1_2_5_11_1","first-page":"468","article-title":"Associated non cardiac malformations in children with congenital heart disease","volume":"63","author":"Noonan JA","year":"1963","journal-title":"J Pediatr"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.3171\/ped.2004.100.2.0142"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0804622"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.68.795.37"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.12.6903"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000276766"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2009.04.001"}],"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.37053","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37053","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37053","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:45:52Z","timestamp":1696643152000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37053"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,9]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["10.1002\/ajmg.a.37053"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37053","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,9]]}}}