{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:09Z","timestamp":1761717909142},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,6,20]],"date-time":"2003-06-20T00:00:00Z","timestamp":1056067200000},"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":[[2003,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Grebe syndrome is a rare autosomal recessive acromesomelic dysplasia. The syndrome was studied clinically, radiographically, and genetically in an Omani family with four affected children. The affected persons had normal axial skeletons, severely shortened, and deformed limbs with severity increasing in a proximo\u2010distal gradient, and subluxated joints. The humeri and femora were hypoplastic with distal malformations. The radii\/ulnae were shortened and deformed whereas carpal bones were invariably rudimentary or absent. The tibiae appeared rudimentary; fibulae were absent in two children, and some tarsal and metatarsal bones were absent. The proximal and middle phalanges were absent while the distal phalanges were present. The father and mother had short first metacarpal and middle phalynx of the fifth finger and hallux valgus respectively. Transition A1137G and deletion delG1144 mutations in the gene encoding the cartilage\u2010derived morphogenetic protein\u20101 (<jats:italic>CDMP\u20101<\/jats:italic>) were identified in this family. The A1137G is a silent mutation coding for lysine, whereas the delG1144 predicts a frameshift mutation resulting in a presumable loss of the CDMP\u20101 biologically active carboxy\u2010terminal domain. The affected siblings were homozygous for the delG1144 mutation while parents were heterozygous. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20256","type":"journal-article","created":{"date-parts":[[2003,7,31]],"date-time":"2003-07-31T10:15:55Z","timestamp":1059646555000},"page":"9-14","source":"Crossref","is-referenced-by-count":18,"title":["Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family"],"prefix":"10.1002","volume":"121A","author":[{"given":"Said Ali S.","family":"Al\u2010Yahyaee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed Nasser","family":"Al\u2010Kindi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omar","family":"Habbal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dilip Sankhla","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,6,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"28227","DOI":"10.1016\/S0021-9258(18)46918-9","article-title":"Cartilage\u2010derived morphogenetic proteins: New members of the transforming growth factor\u2010beta superfamily predominantly expressed in long bones during human embryonic development","volume":"269","author":"Chang SC","year":"1994","journal-title":"J Biol Chem"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<523::AID-AJMG13>3.0.CO;2-M"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00522.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80915-2"},{"key":"e_1_2_6_6_1","first-page":"23","article-title":"Die Achondrogenesis: Ein einfach rezessives Erbmerkmal","volume":"2","author":"Grebe H","year":"1952","journal-title":"Folia Hered Path"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.2.878"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.10.13.1580"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.00081.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00465.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283684"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0257"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-2725(97)00025-3"},{"key":"e_1_2_6_14_1","first-page":"69","article-title":"Grebe chondrodysplasia in three generations of an Andhra family in India","volume":"104","author":"Meera Khan PM","year":"1982","journal-title":"Prog Clin Biol Res"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-18"},{"key":"e_1_2_6_16_1","first-page":"63","article-title":"A new type of dwarfism with various bone aplasias and hypoplasias of the extremities","volume":"14","author":"Quelce\u2010Salgado A","year":"1964","journal-title":"Acta Genet Statist Med"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(68)92010-2"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1999.2590"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/368639a0"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0396-315"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-58"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.144.1.161"}],"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.20256","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20256","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T20:57:41Z","timestamp":1700168261000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20256"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6,20]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,8,15]]}},"alternative-id":["10.1002\/ajmg.a.20256"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20256","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,6,20]]}}}