{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T15:00:18Z","timestamp":1697641218254},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,12,12]],"date-time":"2006-12-12T00:00:00Z","timestamp":1165881600000},"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":[[2007,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 2\u2010year\u2010old girl affected by an isolated form of brachydactyly type B (BDB)\u2010like malformation of the limbs consistent with Cooks syndrome (CS). A literature review was carried out in an attempt to delineate the CS clinical spectrum and separate it from BDB. The two conditions can be differentiated on clinical, radiological, and genetic grounds. In particular, CS shows a characteristic pattern of ungueal and phalangeal anomalies. In the hands, all rays are involved to a similar extent with bulbous tips. The feet are generally more severely affected than the hands. Involvement of the nails appears to be a primary feature and not secondary to phalangeal hypo\/aplasia. Also, radial and ulnar rays are similarly affected. The CS clinical spectrum is expanded to include ungueal tumor\u2010like lesions, observed in the present patient. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31433","type":"journal-article","created":{"date-parts":[[2006,12,13]],"date-time":"2006-12-13T03:17:27Z","timestamp":1165979847000},"page":"195-199","source":"Crossref","is-referenced-by-count":4,"title":["A novel patient with Cooks syndrome supports splitting from \u201cclassic\u201d brachydactyly type B"],"prefix":"10.1002","volume":"143A","author":[{"given":"Marco","family":"Castori","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Brancati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Mingarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,12,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10233"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00139.x"},{"key":"e_1_2_5_4_1","volume-title":"The treasury of human inheritance","author":"Bell J","year":"1955"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00189.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199901000-00008"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.1.36"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302249"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199407000-00006"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/377110"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00598.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.8.638"},{"key":"e_1_2_5_13_1","first-page":"886","volume-title":"Inborn errors of development","author":"Oldridge M","year":"2004"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/302255"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/73495"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199507000-00015"},{"key":"e_1_2_5_17_1","first-page":"147","article-title":"Hereditary brachydactyly with nail aplasia","volume":"3","author":"Santos HG","year":"1981","journal-title":"Acta Med Port"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.2.119"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/303084"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199907000-00002"},{"key":"e_1_2_5_21_1","first-page":"369","volume-title":"Bone dysplasias. An atlas of genetic disorders of skeletal development","author":"Spranger JW","year":"2002"},{"key":"e_1_2_5_22_1","first-page":"187","volume-title":"The genetics of hand malformations","author":"Temtamy SA","year":"1978"}],"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.31433","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31433","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T20:11:48Z","timestamp":1697055108000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31433"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,12]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,1,15]]}},"alternative-id":["10.1002\/ajmg.a.31433"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31433","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12,12]]}}}