{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T14:41:02Z","timestamp":1700318462793},"reference-count":22,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2002,1,8]],"date-time":"2002-01-08T00:00:00Z","timestamp":1010448000000},"content-version":"vor","delay-in-days":38,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2001,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the prenatal diagnosis at 16 weeks' gestation of bilateral split\u2010hand\/split\u2010foot malformation (SHSFM) with severe lobster claw deformity of hands and feet in a male fetus without associated malformations. A minor manifestation of SHSFM was present in the father with only mild bilateral foot involvement (syndactyly I\u2013II; cleft II\u2013III; left cutaneous syndactyly III\u2013IV).<\/jats:p><jats:p>\u2003Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A\u2192G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A\u2192G (predicting amino acid substitution K194E) in a family with SHSFM. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.181","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T16:30:43Z","timestamp":1030293043000},"page":"1119-1122","source":"Crossref","is-referenced-by-count":9,"title":["Split\u2010hand\/split\u2010foot malformation with paternal mutation in the p63 gene"],"prefix":"10.1002","volume":"21","author":[{"given":"Ingrid","family":"Witters","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Van Bokhoven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Goossens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frans\u2010Andr\u00e9","family":"Van Assche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Pierre","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,1,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591081"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550204"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.7547\/87507315-86-6-244"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.5.571"},{"key":"e_1_2_1_7_1","first-page":"127","article-title":"Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome","volume":"6","author":"De Smet L","year":"1995","journal-title":"Genet Couns"},{"key":"e_1_2_1_8_1","first-page":"17","article-title":"Mapping of the gene for X\u2010chromosomal split\u2010hand\/split\u2010foot anomaly to Xq26\u2013q26.1","volume":"91","author":"Faiyaz ul HM","year":"1993","journal-title":"Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970303)69:1<65::AID-AJMG12>3.0.CO;2-M"},{"key":"e_1_2_1_10_1","volume-title":"Syndromes of the Head and Neck","author":"Gorlin LJ","year":"1990"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550314"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00372.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960614)63:3<472::AID-AJMG11>3.0.CO;2-J"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03412.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.73.4.261"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.11.2165"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.12.996"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00003"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1345"},{"key":"e_1_2_1_21_1","first-page":"19","article-title":"Counseling dilemmas in EEC syndrome","volume":"11","author":"Tekin M","year":"2000","journal-title":"Genet Couns"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1993.01090060020009"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80275-0"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.181","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.181","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T14:22:53Z","timestamp":1700317373000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.181"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,12]]},"references-count":22,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2001,12]]}},"alternative-id":["10.1002\/pd.181"],"URL":"https:\/\/doi.org\/10.1002\/pd.181","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,12]]}}}