{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T19:10:30Z","timestamp":1706814630026},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,12,13]],"date-time":"2005-12-13T00:00:00Z","timestamp":1134432000000},"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":[[2006,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\u201cOrganized human endeavor can be lifted an order of magnitude through teaching if it is inspiring\u201d (Editor, Am J Dis Child, 1972). The benevolent influence of Dr. Judy Hall's inspiring clinical teaching in the field of genetic syndromes and birth defects is illustrated through the eventual surgical remediation of conductive hearing loss for a 4\u2010year\u2010old girl with unusual knuckles. The fascinating history of this child's syndrome has been further explored in the descendents of the first Earl of Shrewsbury. The legends of his story and his role in the Hundred Years War were immortalized by William Shakespeare in his play<jats:italic>Henry VI Part I<\/jats:italic>, but neither Shakespeare nor historians documented that the Earl actually had abnormal finger joints. Heterozygous mutations in the human noggin gene (<jats:italic>NOG<\/jats:italic>) cause a spectrum of joint fusions, including this child's traits. On behalf of practitioners of medicine, pediatrics, clinical genetics, and dysmorphology, as well as research scientists in the many domains of genetics, thank you, Judy, for your inspiration, enthusiasm, and teaching. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31034","type":"journal-article","created":{"date-parts":[[2005,12,14]],"date-time":"2005-12-14T01:46:31Z","timestamp":1134524791000},"page":"156-159","source":"Crossref","is-referenced-by-count":2,"title":["A tribute to our teacher, Dr. Judith Hall: A child with the trait of the Earl of Shrewsbury"],"prefix":"10.1002","volume":"140A","author":[{"given":"Mark J.","family":"Stephan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,12,13]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5368.1455"},{"key":"e_1_2_3_3_1","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1093\/genetics\/1.1.90","article-title":"Hereditary ankylosis of the proximal phalangeal joints (symphalangism)","volume":"1","author":"Cushing H","year":"1916","journal-title":"Genetics"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200109000-00004"},{"key":"e_1_2_3_5_1","first-page":"60","article-title":"Phalangeal anarthrosis (synostosis, ankylosis) transmitted through fourteen generations","volume":"10","author":"Drinkwater H","year":"1917","journal-title":"Proc Roy Soc Med (Sect Pathol)"},{"key":"e_1_2_3_6_1","first-page":"349","article-title":"Thought for the Teacher","volume":"124","author":"Editor","year":"1972","journal-title":"Am J Dis Child"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001113)95:2<118::AID-AJMG5>3.0.CO;2-V"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5537.407"},{"key":"e_1_2_3_9_1","first-page":"344","article-title":"Proximal symphalangism and congenital conductive hearing loss: Otologic aspects","volume":"20","author":"Ensink RJH","year":"1999","journal-title":"Am J Otol"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/6821"},{"key":"e_1_2_3_11_1","volume-title":"Hereditary hearing loss and its syndromes","author":"Gorlin RJ","year":"1995"},{"key":"e_1_2_3_12_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_3_13_1","volume-title":"Shakespeare the complete works","author":"Harrison GB","year":"1952"},{"key":"e_1_2_3_14_1","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1093\/oxfordjournals.jhered.a102481","article-title":"Inherited abnormalities of the fingers","volume":"15","author":"Hefner RA","year":"1924","journal-title":"J Hered"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/301921"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1000050403"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.201367598"},{"key":"e_1_2_3_18_1","first-page":"3041","article-title":"La maladie des synostoses multiples","volume":"1","author":"Maroteaux P","year":"1972","journal-title":"Nouv Presse Med"},{"key":"e_1_2_3_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00009957-200305000-00004"},{"key":"e_1_2_3_20_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1035"},{"key":"e_1_2_3_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80270-6"},{"key":"e_1_2_3_22_1","first-page":"108","article-title":"Symphalangism: Genetic and clinical aspects","volume":"117","author":"Strasburger AK","year":"1965","journal-title":"Bull Johns Hopkins Hosp"},{"key":"e_1_2_3_23_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5262.738"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31034","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31034","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T18:42:39Z","timestamp":1706812959000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12,13]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,1,15]]}},"alternative-id":["10.1002\/ajmg.a.31034"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31034","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,12,13]]}}}