{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:06:34Z","timestamp":1792166794057,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5267,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Roberts\u2010SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre\u2010and postnatal growth retardation, and mental retardation. Patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell\u2010division cycle. We report an infant whose clinical and radiologic findings resemble those of RS but who lacks the cytogenetic and cell division abnormalities reported in RS. This patient may represent a variant of RS or a new syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320380106","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:04:39Z","timestamp":1118549079000},"page":"21-24","source":"Crossref","is-referenced-by-count":14,"title":["Roberts syndrome with normal cell division"],"prefix":"10.1002","volume":"38","author":[{"given":"Laura Davis","family":"Keppen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne M.","family":"Gollin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna J.","family":"Seibert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesse E.","family":"Sisken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-1161(89)90049-6"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb01652.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01354.x"},{"key":"e_1_2_1_5_1","first-page":"353","article-title":"The tetraphocomeliacleft palate syndrome","volume":"28","author":"Grosse TR","year":"1975","journal-title":"Humangenetik"},{"key":"e_1_2_1_6_1","series-title":"BD:OAS","first-page":"81","volume-title":"The Clinical Delineation of Birth Defects: Part III, Limb Malformations","author":"Herrmann J","year":"1969"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00489985"},{"key":"e_1_2_1_8_1","first-page":"A109","article-title":"Association of centrometric dysfunction with mitotic abnormalities in Roberts syndrome","volume":"43","author":"Jabs EW","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","first-page":"256","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KM","year":"1988"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040305"},{"key":"e_1_2_1_11_1","first-page":"252","article-title":"A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the jaw and imperfect development of the bones of the extremities","volume":"70","author":"Roberts JB","year":"1919","journal-title":"Ann Surg"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02790.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.1041130206"},{"key":"e_1_2_1_14_1","first-page":"137","article-title":"Alterations in metaphase durations in cells derived from human tumors","volume":"18","author":"Sisken JE","year":"1985","journal-title":"Cell Tissue Kinet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040104"},{"key":"e_1_2_1_16_1","first-page":"1332","article-title":"Abnormalities in the cell division cycle in Roberts syndrome fibroblasts: A cellular basis for the phenotypic characteristics?","volume":"36","author":"Tomkins D","year":"1984","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320380106","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320380106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T03:24:37Z","timestamp":1698031477000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320380106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,1]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,1]]}},"alternative-id":["10.1002\/ajmg.1320380106"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320380106","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,1]]}}}